Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMEM55A	55529	broad.mit.edu	37	8	92007999	92007999	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:92007999C>A	ENST00000285419.3	-	7	994	c.680G>T	c.(679-681)tGg>tTg	p.W227L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	227						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AGCAATTGCCCAAGAAACATA	0.363000													15	43					1.67942e-08	2.13286e-08	0.006122	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951150	30951150	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:30951150G>A	ENST00000402321.1	-	3	1379	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	GAL3ST1_ENST00000402369.1_Silent_p.A354A|GAL3ST1_ENST00000401975.1_Silent_p.A354A|GAL3ST1_ENST00000443111.2_Silent_p.A354A|GAL3ST1_ENST00000406955.1_Silent_p.A354A|GAL3ST1_ENST00000406361.1_Silent_p.A354A|GAL3ST1_ENST00000338911.5_Silent_p.A354A			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	354					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGATGGCGGCGGCGTCCACGG	0.716000													19	39					0	0	0.008871	0	0
ZNF48	197407	broad.mit.edu	37	16	30408665	30408665	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:30408665A>T	ENST00000320159.2	+	2	470	c.94A>T	c.(94-96)Aac>Tac	p.N32Y		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGGGAGTGAGAACGTGATTTC	0.473000													28	85					0	0	0.007291	0	0
HGS	9146	broad.mit.edu	37	17	79662939	79662939	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:79662939A>G	ENST00000329138.4	+	15	1438	c.1303A>G	c.(1303-1305)Aat>Gat	p.N435D		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	435	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCATCACCAATGACTCGGC	0.622000													15	46					0	0	0.002450	0	0
CNTN3	5067	broad.mit.edu	37	3	74347306	74347306	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:74347306C>G	ENST00000263665.6	-	17	2230	c.2203G>C	c.(2203-2205)Ggg>Cgg	p.G735R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	735	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACAACATACCCAAAACCTTCA	0.458000													8	24					0	0	0.006214	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966994	41966994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:41966994G>T	ENST00000298919.7	+	10	2021	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E547*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E805*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	805							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGTAGCGCTGAAAGCAAGGA	0.517000													42	124					4.16155e-14	5.82066e-14	0.008740	1	0
CRB1	23418	broad.mit.edu	37	1	197397023	197397023	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197397023A>T	ENST00000367397.1	+	3	1569	c.711A>T	c.(709-711)agA>agT	p.R237S	CRB1_ENST00000535699.1_Missense_Mutation_p.R787S|CRB1_ENST00000367400.3_Missense_Mutation_p.R856S|CRB1_ENST00000544212.1_Missense_Mutation_p.R337S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R744S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	856	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGATGTAAGACTAAACAACC	0.408000													9	20					0	0	0.004482	0	0
ZNF253	56242	broad.mit.edu	37	19	20002666	20002666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:20002666G>T	ENST00000589717.1	+	4	702	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.E128*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	204					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGATGTGAAGAATGTGGCAA	0.373000													11	28					5.16669e-11	6.90704e-11	0.010729	1	0
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:32147865C>T	ENST00000427134.2	+	5	422	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000375094.3_Missense_Mutation_p.T136I			Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557000													4	196					0	0	0.009096	0	0
LETM1	3954	broad.mit.edu	37	4	1827372	1827372	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1827372C>A	ENST00000302787.2	-	7	1415	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	373	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAGCTCCTTGACATTCA	0.577000													12	37					3.07112e-06	3.65198e-06	0.010729	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879232	3879232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:3879232C>G	ENST00000315677.3	-	4	1432	c.837G>C	c.(835-837)tgG>tgC	p.W279C	DLGAP1_ENST00000515196.2_Missense_Mutation_p.W279C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.W279C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.W279C|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCT	0.642000													19	65					0	0	0.006122	0	0
ACTN2	88	broad.mit.edu	37	1	236914832	236914832	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:236914832G>T	ENST00000366578.4	+	15	1885	c.1719G>T	c.(1717-1719)caG>caT	p.Q573H	ACTN2_ENST00000546208.1_Missense_Mutation_p.Q67H|ACTN2_ENST00000542672.1_Missense_Mutation_p.Q573H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	573					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGAGCGGCAGTCCATCATGG	0.547000													26	66					8.58068e-18	1.26421e-17	0.007291	1	0
WDR43	23160	broad.mit.edu	37	2	29169565	29169565	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:29169565G>A	ENST00000407426.3	+	18	2010	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	652						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					agaaaatggcgaggacagaga	0.403000													3	8					0	0	0.004672	0	0
PARD3B	117583	broad.mit.edu	37	2	205986412	205986412	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:205986412G>A	ENST00000406610.2	+	8	1111	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	PARD3B_ENST00000462231.1_Missense_Mutation_p.G302S|PARD3B_ENST00000349953.3_Missense_Mutation_p.G302S|PARD3B_ENST00000358768.2_Missense_Mutation_p.G302S|PARD3B_ENST00000351153.1_Missense_Mutation_p.G302S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	302					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GTCAGTCATTGGCTCTCTTAA	0.463000													34	38					0	0	0.012213	0	0
DYRK4	8798	broad.mit.edu	37	12	4702204	4702204	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:4702204A>G	ENST00000540757.2	+	4	315	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	DYRK4_ENST00000010132.5_Missense_Mutation_p.Y52C|DYRK4_ENST00000543431.1_Missense_Mutation_p.Y52C	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	52						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGTCTCCATATGAACAAAGT	0.483000													29	103					0	0	0.008361	0	0
APOB	338	broad.mit.edu	37	2	21226197	21226197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:21226197C>T	ENST00000233242.1	-	29	12224	c.12097G>A	c.(12097-12099)Gat>Aat	p.D4033N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4033					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTTTTTATCTGGAGAGGAC	0.338000													87	238					0	0	0.014410	0	0
ZMYM3	9203	broad.mit.edu	37	X	70463741	70463741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70463741G>A	ENST00000373998.1	-	21	4031	c.3334C>T	c.(3334-3336)Cgg>Tgg	p.R1112W	ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1124W|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1119W|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1126W|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1124W	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1124					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCATTGGGCCGAGTGATTTCT	0.493000													28	20					0	0	0.010818	0	0
SKIL	6498	broad.mit.edu	37	3	170078601	170078601	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170078601G>T	ENST00000458537.3	+	1	1191	c.482G>T	c.(481-483)gGa>gTa	p.G161V	SKIL_ENST00000413427.2_Missense_Mutation_p.G161V|SKIL_ENST00000259119.4_Missense_Mutation_p.G161V|SKIL_ENST00000426052.2_Missense_Mutation_p.G141V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	161					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAGTTGGAGGAGAAAAGAGA	0.418000													32	98					5.60225e-13	7.76731e-13	0.009535	1	0
CAPSL	133690	broad.mit.edu	37	5	35910057	35910057	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35910057G>A	ENST00000397367.2	-	4	562	c.436C>T	c.(436-438)Cca>Tca	p.P146S	CAPSL_ENST00000397366.1_Missense_Mutation_p.P146S|CAPSL_ENST00000514524.1_Missense_Mutation_p.P146S	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	146	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGTACTTTGGGTGGTGTTTT	0.368000													28	87					0	0	0.007291	0	0
CHKB	1120	broad.mit.edu	37	22	51018496	51018496	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:51018496C>G	ENST00000406938.2	-	8	1051	c.834G>C	c.(832-834)ggG>ggC	p.G278G		NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	278					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AAAAATGGTTCCCAATGTCAA	0.493000													37	104					0	0	0.003755	0	0
GPR101	83550	broad.mit.edu	37	X	136113046	136113046	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:136113046C>T	ENST00000298110.1	-	1	787	c.788G>A	c.(787-789)cGc>cAc	p.R263H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	263						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATGCTGGCGGCGAAACTCACT	0.557000													58	55					0	0	0.014410	0	0
TEAD4	7004	broad.mit.edu	37	12	3147246	3147246	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:3147246T>A	ENST00000359864.2	+	11	1200	c.1010T>A	c.(1009-1011)tTc>tAc	p.F337Y	TEAD4_ENST00000358409.2_Missense_Mutation_p.F294Y|TEAD4_ENST00000397122.2_Missense_Mutation_p.F208Y	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	337					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCTGCTCTTTCGGCAAGCAG	0.577000													31	112					0	0	0.009535	0	0
KLB	152831	broad.mit.edu	37	4	39436011	39436011	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:39436011G>T	ENST00000257408.4	+	2	1104	c.1007G>T	c.(1006-1008)gGg>gTg	p.G336V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	336	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CCTATCCATGGGGATGGCGAC	0.468000													23	69					1.50039e-11	2.02712e-11	0.012319	1	0
LILRA2	11027	broad.mit.edu	37	19	55087020	55087020	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55087020G>T	ENST00000251377.3	+	6	1085		c.e6+1		LILRA2_ENST00000391737.1_Splice_Site|LILRA2_ENST00000391738.3_Splice_Site|LILRA2_ENST00000251376.3_Splice_Site|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGATCACAGGTGAGGAGCCC	0.662000													19	67					4.35082e-09	5.62682e-09	0.010504	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26045742	26045742	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26045742G>T	ENST00000540144.1	+	1	104	c.104G>T	c.(103-105)gGc>gTc	p.G35V		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	35					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCCACCGGTGGCGTGAAGAAA	0.627000													15	66					0.000219431	0.00025061	0.002450	1	0
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	C	G	rs145734588	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:164725726C>G	ENST00000264382.3	-	36	4302	c.4240G>C	c.(4240-4242)Gaa>Caa	p.E1414Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1414	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1414K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATTTAGTTCGTCATTTCTG	0.264000										HNSCC(35;0.089)			23	48					0	0	0.005443	0	0
ITGA4	3676	broad.mit.edu	37	2	182392030	182392030	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:182392030A>G	ENST00000397033.2	+	22	2776	c.2346A>G	c.(2344-2346)gtA>gtG	p.V782V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	782					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCAGGTTTGTAAACCCAACTT	0.299000													3	34					0	0	0.009096	0	0
CHAF1A	10036	broad.mit.edu	37	19	4442304	4442304	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:4442304C>T	ENST00000301280.5	+	14	2837	c.2736C>T	c.(2734-2736)ggC>ggT	p.G912G		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	912	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggaggGCGACTGTATGA	0.592000								Chromatin Structure					7	13					0	0	0.001984	0	0
SRRM4	84530	broad.mit.edu	37	12	119583342	119583342	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119583342G>A	ENST00000267260.4	+	9	1316	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	310	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGAGAAGGGGAGCCCCAG	0.622000													4	28					0	0	0.000602	0	0
DOK5	55816	broad.mit.edu	37	20	53260098	53260098	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:53260098A>G	ENST00000262593.5	+	7	1187	c.837A>G	c.(835-837)ggA>ggG	p.G279G	DOK5_ENST00000395939.1_Silent_p.G171G	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	279							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ACAGCACGGGACAGCTCTACC	0.652000													10	45					0	0	0.006214	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209153476	209153476	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209153476A>G	ENST00000264380.4	+	7	1003	c.845A>G	c.(844-846)aAt>aGt	p.N282S	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.N282S|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.N196S|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.N185S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	282					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTCCTCAAATACTCCTCTT	0.358000													19	29					0	0	0.007413	0	0
CSAD	51380	broad.mit.edu	37	12	53563908	53563908	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:53563908C>T	ENST00000267085.4	-	10	964	c.731G>A	c.(730-732)gGg>gAg	p.G244E	CSAD_ENST00000379846.1_Missense_Mutation_p.G70E|CSAD_ENST00000379843.3_Missense_Mutation_p.G70E|CSAD_ENST00000444623.1_Missense_Mutation_p.G217E|CSAD_ENST00000453446.2_Missense_Mutation_p.G217E	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	217					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GACCATTTTCCCTCTGAAAAA	0.522000													20	49					0	0	0.008871	0	0
SLC24A5	283652	broad.mit.edu	37	15	48429025	48429025	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:48429025C>T	ENST00000341459.3	+	6	809	c.736C>T	c.(736-738)Cca>Tca	p.P246S	SLC24A5_ENST00000449382.2_Missense_Mutation_p.P186S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	246					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGAACAACAGCCACTGATGGG	0.418000													11	27					0	0	0.008291	0	0
KPNA2	3838	broad.mit.edu	37	17	66040510	66040510	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:66040510T>A	ENST00000537025.2	+	9	1858	c.1238T>A	c.(1237-1239)aTt>aAt	p.I413N	KPNA2_ENST00000330459.3_Missense_Mutation_p.I413N			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	413					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTGAACAGATTGTGTACCTT	0.388000													61	184					0	0	0.014410	0	0
NR5A1	2516	broad.mit.edu	37	9	127253385	127253385	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:127253385G>C	ENST00000373588.4	-	6	1309	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	371	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						TGATGAACTTGAGGCAGACAA	0.652000													7	12					0	0	0.003080	0	0
OR5K4	403278	broad.mit.edu	37	3	98072954	98072954	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:98072954T>A	ENST00000354924.2	+	1	257	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAGAATTTCTTTTCTGAGGAT	0.438000													115	268					0	0	0.014410	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395768	38395768	+	Missense_Mutation	SNP	G	G	A	rs61757680		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:38395768G>A	ENST00000377698.3	+	2	176	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	8					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTGGCACCCCGGCTGCTTAGC	0.627000													30	44					0	0	0.008361	0	0
EED	8726	broad.mit.edu	37	11	85977217	85977217	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:85977217A>T	ENST00000263360.6	+	8	1505	c.819A>T	c.(817-819)gcA>gcT	p.A273A	EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Silent_p.A273A|EED_ENST00000327320.4_Silent_p.A273A	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	273	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TGATGAATGCAATTAAGGAAT	0.299000													24	91					0	0	0.002780	0	0
SLIT2	9353	broad.mit.edu	37	4	20493400	20493400	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:20493400G>C	ENST00000504154.1	+	9	1044	c.792G>C	c.(790-792)atG>atC	p.M264I	SLIT2_ENST00000273739.5_Missense_Mutation_p.M268I|SLIT2_ENST00000503823.1_Missense_Mutation_p.M264I|SLIT2_ENST00000503837.1_Missense_Mutation_p.M268I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	264	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTCATTTATGGCTCCTTCTT	0.403000													29	108					0	0	0.009535	0	0
KIAA1524	57650	broad.mit.edu	37	3	108270064	108270064	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:108270064T>C	ENST00000295746.8	-	21	2726	c.2650A>G	c.(2650-2652)Atg>Gtg	p.M884V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M725V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	884						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGCTATCATGTGGGAGTGT	0.378000													10	45					0	0	0.008291	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099315	128099315	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:128099315C>T	ENST00000470056.1	+	14	2607	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S816F|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S795F|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S795F|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S843F|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S816F|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S816F			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	816					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCTGACCTCTCCTCCTTCT	0.468000													22	31					0	0	0.014323	0	0
DNAH5	1767	broad.mit.edu	37	5	13758967	13758967	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13758967C>A	ENST00000265104.4	-	61	10511	c.10407G>T	c.(10405-10407)atG>atT	p.M3469I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3469	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTTTCAGTCATGGCCTGTT	0.532000									Kartagener syndrome				57	133					4.88482e-21	7.36785e-21	0.014410	1	0
OR10G8	219869	broad.mit.edu	37	11	123900617	123900617	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:123900617C>T	ENST00000431524.1	+	1	321	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCACAGCTGCATGGCTCAGC	0.527000													41	130					0	0	0.006230	0	0
RNF6	6049	broad.mit.edu	37	13	26789615	26789615	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:26789615C>T	ENST00000381588.4	-	5	1156	c.404G>A	c.(403-405)aGa>aAa	p.R135K	RNF6_ENST00000399762.2_Missense_Mutation_p.E14K|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.R135K|RNF6_ENST00000346166.3_Missense_Mutation_p.R135K	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	135					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTCACAGCTCTCCAAGTTTG	0.408000													20	34					0	0	0.008871	0	0
PABPC4L	132430	broad.mit.edu	37	4	135121515	135121515	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:135121515C>A	ENST00000529122.2	-	2	916	c.834G>T	c.(832-834)aaG>aaT	p.K278N	PABPC4L_ENST00000421491.3_Missense_Mutation_p.K220N	NM_001114734.1	NP_001108206.2			poly(A) binding protein, cytoplasmic 4-like											breast(1)|endometrium(2)	3						CTGTCATCACCTTAACACTCA	0.408000													4	8					1.23904e-05	1.45164e-05	0.000602	1	0
CEP85L	387119	broad.mit.edu	37	6	118887324	118887324	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:118887324T>A	ENST00000368491.3	-	3	1009	c.388A>T	c.(388-390)Atg>Ttg	p.M130L	CEP85L_ENST00000392500.3_Missense_Mutation_p.M133L|CEP85L_ENST00000360290.3_Missense_Mutation_p.M28L|CEP85L_ENST00000368488.5_Missense_Mutation_p.M133L|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.M130L	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	130						centrosome											AATGTTTGCATGAGGCTTGTA	0.478000													15	82					0	0	0.006122	0	0
ZNF285	26974	broad.mit.edu	37	19	44890987	44890987	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44890987G>T	ENST00000330997.4	-	4	1484	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	ZNF285_ENST00000544719.2_Missense_Mutation_p.H474N|ZNF285_ENST00000591679.1_Missense_Mutation_p.H481N|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTCTCTGATGAGTGTGAAGA	0.398000													30	75					7.26314e-15	1.02264e-14	0.007291	1	0
ADCY2	108	broad.mit.edu	37	5	7521006	7521006	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:7521006C>A	ENST00000338316.4	+	3	653	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	188				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCACCTGGTCTGGCAGGTGG	0.607000													18	64					8.34094e-07	1.00503e-06	0.008871	1	0
SUPV3L1	6832	broad.mit.edu	37	10	70962202	70962202	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:70962202G>A	ENST00000359655.4	+	12	1586	c.1526G>A	c.(1525-1527)gGt>gAt	p.G509D		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	509	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGGCAGCTGGTCTTCATCCA	0.363000													31	59					0	0	0.009535	0	0
SGCB	6443	broad.mit.edu	37	4	52895089	52895089	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:52895089T>A	ENST00000381431.5	-	4	652		c.e4-2		SGCB_ENST00000535450.1_Splice_Site	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)						cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAAAACAATCTTCAAAAAAAA	0.294000													8	32					0	0	0.004482	0	0
CYB5R3	1727	broad.mit.edu	37	22	43015836	43015836	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:43015836G>C	ENST00000361740.4	-	9	947	c.948C>G	c.(946-948)gcC>gcG	p.A316A	CYB5R3_ENST00000396303.3_Silent_p.A260A|CYB5R3_ENST00000407623.3_Silent_p.A260A|CYB5R3_ENST00000407332.1_Silent_p.A260A|CYB5R3_ENST00000402438.1_Silent_p.A260A|CYB5R3_ENST00000352397.5_Silent_p.A283A	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	283					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	TGGGAAGGCAGGCGTACTGGA	0.682000													6	17					0	0	0.001984	0	0
KIF26B	55083	broad.mit.edu	37	1	245865828	245865828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:245865828C>A	ENST00000366518.4	+	12	5208	c.5104C>A	c.(5104-5106)Cgc>Agc	p.R1702S	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2083S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2083	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACGGAGCGCCTGGAGAG	0.577000													22	65					1.96895e-08	2.48565e-08	0.002780	1	0
EVA1A	84141	broad.mit.edu	37	2	75720464	75720464	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:75720464C>A	ENST00000233712.1	-	4	794	c.357G>T	c.(355-357)gaG>gaT	p.E119D	EVA1A_ENST00000410071.1_Missense_Mutation_p.E119D|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410010.1_Missense_Mutation_p.E107D|EVA1A_ENST00000410113.1_Missense_Mutation_p.E119D|EVA1A_ENST00000393913.3_Missense_Mutation_p.E119D	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		GCTGGGCGCGCTCCAGCTCCT	0.612000													24	55					1.96895e-08	2.48565e-08	0.002780	1	0
HERC2P3	283755	broad.mit.edu	37	15	20643904	20643904	+	RNA	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:20643904T>C	ENST00000428453.1	-	0	3555																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AACTGCACGGTGATTTTGCCC	0.517000													15	123					0	0	0.007413	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685832	44685832	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44685832T>A	ENST00000454036.1	+	25	3294	c.3218T>A	c.(3217-3219)aTg>aAg	p.M1073K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.M1050K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1073					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGCGGCGCATGCACACGGCC	0.637000													50	39					0	0	0.014410	0	0
DHX34	9704	broad.mit.edu	37	19	47884120	47884120	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:47884120G>T	ENST00000328771.4	+	15	3379	c.3030G>T	c.(3028-3030)atG>atT	p.M1010I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1010						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCAGAACATGTATGTGGGAC	0.602000													17	67					3.57192e-18	5.29947e-18	0.006122	1	0
THOC2	57187	broad.mit.edu	37	X	122802034	122802034	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:122802034T>A	ENST00000245838.8	-	10	1024	c.993A>T	c.(991-993)gaA>gaT	p.E331D	THOC2_ENST00000491737.1_Missense_Mutation_p.E216D|THOC2_ENST00000355725.4_Missense_Mutation_p.E331D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	331					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						cctcttctttttccttttctt	0.313000													41	29					0	0	0.007835	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304000	151304000	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:151304000G>A	ENST00000370323.4	-	4	409	c.93C>T	c.(91-93)ccC>ccT	p.P31P	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.P31P	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	31										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGCCAGGGGAGCCTGTG	0.562000													34	20					0	0	0.010818	0	0
NOTCH2	4853	broad.mit.edu	37	1	120529625	120529625	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:120529625C>A	ENST00000256646.2	-	5	1051	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	278	EGF-like 7; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGTTGACCCCATCCACACAA	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	92					0.00909568	0.00994106	0.009096	1	0
CHAD	1101	broad.mit.edu	37	17	48545853	48545853	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:48545853G>T	ENST00000508540.1	-	1	474	c.322C>A	c.(322-324)Cat>Aat	p.H108N	CHAD_ENST00000258969.4_Missense_Mutation_p.H108N|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	108					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATGTCGTTATGGGACAGGTAC	0.627000													23	78					9.57634e-11	1.27217e-10	0.003330	1	0
FMN2	56776	broad.mit.edu	37	1	240371006	240371006	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240371006C>A	ENST00000319653.9	+	5	3124	c.2894C>A	c.(2893-2895)cCc>cAc	p.P965H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	965	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGGCATACCCCTTCCTCCC	0.701000													21	28					0.000229342	0.000261458	0.012319	1	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:25835674G>A	ENST00000280701.3	+	3	1168	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	OXSM_ENST00000420173.2_Missense_Mutation_p.A274T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													18	21					0	0	0.007413	0	0
GPER1	2852	broad.mit.edu	37	7	1132336	1132336	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:1132336C>T	ENST00000397092.1	+	3	1856	c.972C>T	c.(970-972)taC>taT	p.Y324Y	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Silent_p.Y324Y|GPER_ENST00000297469.3_Silent_p.Y324Y|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Silent_p.Y324Y|C7orf50_ENST00000397100.2_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		324						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CCCTCATCTACAGCTTTCTCG	0.587000													55	85					0	0	0.014410	0	0
MC4R	4160	broad.mit.edu	37	18	58039143	58039143	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:58039143C>A	ENST00000299766.3	-	1	858	c.440G>T	c.(439-441)aGg>aTg	p.R147M		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	147					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGTAAAGTACCTGTCCACTGC	0.433000													13	49					5.50884e-06	6.49e-06	0.013537	1	0
FAM46C	54855	broad.mit.edu	37	1	118165682	118165682	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118165682C>T	ENST00000369448.3	+	2	439	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	64										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGCAGGCATCAAAGTGCACG	0.552000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			30	80					0	0	0.008361	0	0
DSCAM	1826	broad.mit.edu	37	21	41450794	41450794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:41450794G>T	ENST00000400454.1	-	26	5008	c.4531C>A	c.(4531-4533)Cta>Ata	p.L1511I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1511	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTAGTGTGAAGGAG	0.557000													8	28					0.000157383	0.000180069	0.003080	1	0
ZNF621	285268	broad.mit.edu	37	3	40570897	40570897	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:40570897G>C	ENST00000339296.5	+	3	564	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000403205.2_Missense_Mutation_p.E38Q|ZNF621_ENST00000310898.1_Missense_Mutation_p.E38Q|ZNF621_ENST00000431278.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGTACGGGGAGGTGATGCT	0.527000													44	91					0	0	0.009718	0	0
ZNF99	7652	broad.mit.edu	37	19	22940345	22940345	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940345T>A	ENST00000397104.3	-	5	2092	c.2093A>T	c.(2092-2094)tAt>tTt	p.Y698F	ZNF99_ENST00000596209.1_Missense_Mutation_p.Y789F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTATAGGGTTTCTT	0.353000													14	30					0	0	0.002450	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170649	123170649	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:123170649C>G	ENST00000349780.4	-	31	4881	c.4702G>C	c.(4702-4704)Gat>Cat	p.D1568H	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D1527H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1568H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D1536H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1568					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCTCTTCATCCAGCTTCTCA	0.557000													24	51					0	0	0.014323	0	0
LGALS13	29124	broad.mit.edu	37	19	40095319	40095319	+	Splice_Site	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40095319G>C	ENST00000221797.4	+	2	137		c.e2+1			NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13						lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ACTCTTTTATGTGAGTACTCC	0.453000													39	114					0	0	0.010771	0	0
DCTN1	1639	broad.mit.edu	37	2	74594514	74594514	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:74594514C>G	ENST00000361874.3	-	19	2535	c.2218G>C	c.(2218-2220)Gag>Cag	p.E740Q	DCTN1_ENST00000394003.3_Missense_Mutation_p.E733Q|DCTN1_ENST00000409868.1_Missense_Mutation_p.E723Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.E606Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.E606Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.E720Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.E703Q|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	740					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTACAGTCCTCAGGCTGTTCG	0.527000													18	37					0	0	0.007413	0	0
CSMD3	114788	broad.mit.edu	37	8	113277722	113277722	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113277722G>T	ENST00000297405.5	-	60	9850	c.9606C>A	c.(9604-9606)ggC>ggA	p.G3202G	CSMD3_ENST00000343508.3_Silent_p.G3162G|CSMD3_ENST00000455883.2_Silent_p.G3033G|CSMD3_ENST00000352409.3_Silent_p.G3132G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3202	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATCGTGTAGCCTGGCTGGC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	63					2.08457e-15	2.96794e-15	0.010818	1	0
RYR2	6262	broad.mit.edu	37	1	237608741	237608741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237608741G>A	ENST00000366574.2	+	14	1528	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	RYR2_ENST00000542537.1_Missense_Mutation_p.S388N|RYR2_ENST00000360064.6_Missense_Mutation_p.S402N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	404	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGGCATAAGTTTGTCGAGA	0.413000													28	69					0	0	0.005443	0	0
TDRP	157695	broad.mit.edu	37	8	444571	444571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:444571C>T	ENST00000324079.6	-	2	375	c.135G>A	c.(133-135)tgG>tgA	p.W45*	TDRP_ENST00000523656.1_Nonsense_Mutation_p.W45*|TDRP_ENST00000524229.1_5'UTR|TDRP_ENST00000427263.2_Nonsense_Mutation_p.W45*					testis development related protein																		TCACTTCTTTCCAACCTCGGA	0.383000													10	30					0	0	0.006214	0	0
FOLR4	390243	broad.mit.edu	37	11	94040453	94040453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:94040453G>A	ENST00000440961.2	+	3	494	c.450G>A	c.(448-450)tgG>tgA	p.W150*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	157						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGGTGGCTGGGACTGGAGTC	0.587000													4	22					0	0	0.009096	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932314	75932314	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:75932314G>A	ENST00000262207.4	+	12	1712	c.1244_splice	c.e12+1	p.R415_splice	CRISPLD1_ENST00000523524.1_Splice_Site_p.R227_splice|CRISPLD1_ENST00000517786.1_Splice_Site_p.R229_splice	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	415	LCCL 2.					extracellular region		p.R415I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTGCCCAAGGTAAACCAGT	0.408000													14	32					0	0	0.003163	0	0
OGDHL	55753	broad.mit.edu	37	10	50964873	50964873	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50964873G>T	ENST00000374103.4	-	3	409	c.324C>A	c.(322-324)agC>agA	p.S108R	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	108					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACCAATTTGCTGGTCTTGG	0.632000													28	46					3.65163e-15	5.18744e-15	0.006320	1	0
USH2A	7399	broad.mit.edu	37	1	216172316	216172316	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:216172316C>A	ENST00000366943.2	-	34	6956	c.6570G>T	c.(6568-6570)tgG>tgT	p.W2190C	USH2A_ENST00000307340.3_Missense_Mutation_p.W2190C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2190	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGACACTCCAAATTGTAA	0.338000										HNSCC(13;0.011)			17	55					9.16793e-09	1.17136e-08	0.004990	1	0
TBC1D21	161514	broad.mit.edu	37	15	74178913	74178913	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:74178913G>T	ENST00000300504.2	+	8	820	c.737G>T	c.(736-738)cGt>cTt	p.R246L	TBC1D21_ENST00000562056.1_Missense_Mutation_p.R209L|TBC1D21_ENST00000535547.2_Missense_Mutation_p.R210L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	246	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCTTCCAGCGTGCCTTCAAG	0.592000													33	58					3.21399e-22	4.90598e-22	0.004878	1	0
EPG5	57724	broad.mit.edu	37	18	43496500	43496500	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:43496500G>A	ENST00000282041.5	-	18	3321	c.3287C>T	c.(3286-3288)cCt>cTt	p.P1096L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1096					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GACACCCTGAGGGACACCGCT	0.537000													14	36					0	0	0.001855	0	0
CCL2	6347	broad.mit.edu	37	17	32582401	32582401	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:32582401G>T	ENST00000225831.4	+	1	98	c.33G>T	c.(31-33)ctG>ctT	p.L11L	CCL2_ENST00000580907.1_Silent_p.L11L	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	11					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TGTGCCTGCTGCTCATAGCAG	0.537000													7	45					2.0095e-06	2.40307e-06	0.001984	1	0
SEMA3B	7869	broad.mit.edu	37	3	50314079	50314079	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:50314079G>A	ENST00000418948.1	+	0	2426							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTAACCGGAGGACCCACGCC	0.721000													3	9					0	0	0.004672	0	0
PRSS38	339501	broad.mit.edu	37	1	228033818	228033818	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:228033818C>A	ENST00000366757.3	+	5	914	c.890C>A	c.(889-891)aCt>aAt	p.T297N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	297					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCACGCCCACTCCTGCTCAG	0.562000													15	69					1.05317e-09	1.37323e-09	0.002450	1	0
REN	5972	broad.mit.edu	37	1	204130517	204130517	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204130517G>A	ENST00000367195.2	-	3	319	c.276C>T	c.(274-276)atC>atT	p.I92I	REN_ENST00000272190.8_Silent_p.I92I			P00797	RENI_HUMAN	renin	92					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGGGGTGCCGATGCCAATCT	0.582000													6	24					0	0	0.001168	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080467	70080467	+	RNA	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:70080467C>T	ENST00000505646.1	+	0	631																											CATTCTTTTCCAGTCACTGTT	0.358000													46	113					0	0	0.011902	0	0
PTPN22	26191	broad.mit.edu	37	1	114397155	114397155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:114397155C>T	ENST00000359785.5	-	9	823	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.G230S|PTPN22_ENST00000420377.2_Missense_Mutation_p.G230S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	230	Substrate binding.|Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCACAGCCAGCACTGAAA	0.418000													6	29					0	0	0.001168	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965526	35965526	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35965526C>T	ENST00000274278.3	-	4	1162	c.805G>A	c.(805-807)Gga>Aga	p.G269R	UGT3A1_ENST00000507113.1_Missense_Mutation_p.G235R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G269R|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G215R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	269						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAAGCCTCCAATATAAACA	0.428000													16	62					0	0	0.004007	0	0
OR51A2	401667	broad.mit.edu	37	11	4976784	4976784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:4976784C>A	ENST00000380371.1	-	1	159	c.160G>T	c.(160-162)Gag>Tag	p.E54*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGAGGGCTCTGTCTTGATG	0.428000													20	22					2.89027e-11	3.88839e-11	0.014323	1	0
HERC2P4	100289574	broad.mit.edu	37	16	32163828	32163828	+	RNA	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:32163828T>A	ENST00000564145.1	-	0	6																											GGAGTTGATGTACTTGTTGAT	0.527000													20	62					0	0	0.006320	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308834	205308834	+	Missense_Mutation	SNP	G	G	A	rs17853535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205308834G>A	ENST00000367156.3	-	6	1295	c.479C>T	c.(478-480)cCc>cTc	p.P160L	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.P160L|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.P47L|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.P26L|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.P160L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	160				P -> H (in Ref. 4; AAH36076).						breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGGGCATGGGTGCTAGGGA	0.567000													12	50					0	0	0.001855	0	0
POTEG	404785	broad.mit.edu	37	14	19563520	19563520	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:19563520C>T	ENST00000409832.3	+	5	1086	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	345										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGAGTATGCTGTTTCTAGT	0.353000													45	161					0	0	0.014410	0	0
CNGA1	1259	broad.mit.edu	37	4	47939007	47939007	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47939007G>T	ENST00000402813.3	-	10	1853	c.1711C>A	c.(1711-1713)Cct>Act	p.P571T	CNGA1_ENST00000514170.1_Missense_Mutation_p.P502T|CNGA1_ENST00000420489.2_Missense_Mutation_p.P502T|CNGA1_ENST00000358519.4_Missense_Mutation_p.P502T|CNGA1_ENST00000544810.1_Missense_Mutation_p.P502T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	502					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATCTCCAGGACTGTAGACT	0.438000													19	106					5.03518e-11	6.74545e-11	0.007413	1	0
ZNF282	8427	broad.mit.edu	37	7	148903833	148903833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:148903833G>T	ENST00000262085.3	+	3	736	c.631G>T	c.(631-633)Gag>Tag	p.E211*	ZNF282_ENST00000479907.1_Nonsense_Mutation_p.E211*	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	211	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCCGAAGACGAGTGGAAGAA	0.498000													74	174					9.07738e-34	1.44465e-33	0.014410	1	0
SPAG17	200162	broad.mit.edu	37	1	118624066	118624066	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118624066C>G	ENST00000336338.5	-	14	2027	c.1962G>C	c.(1960-1962)atG>atC	p.M654I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	654						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGAGTATTCATTTTCATGA	0.408000													20	75					0	0	0.010504	0	0
ACSM5	54988	broad.mit.edu	37	16	20430566	20430566	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:20430566G>T	ENST00000331849.4	+	4	579	c.432G>T	c.(430-432)ccG>ccT	p.P144P	ACSM5_ENST00000575584.1_Silent_p.P144P	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	144					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGATGATTCCGGGTGTGACTC	0.552000													20	46					8.10497e-08	1.01312e-07	0.010504	1	0
PZP	5858	broad.mit.edu	37	12	9356471	9356471	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:9356471T>A	ENST00000261336.2	-	2	188	c.160A>T	c.(160-162)Aat>Tat	p.N54Y		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACTGTCTCATTCAGGTGGCTC	0.532000													31	105					0	0	0.009535	0	0
MANEA	79694	broad.mit.edu	37	6	96053988	96053988	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:96053988C>A	ENST00000358812.4	+	5	1230	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	366	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	p.R366C(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TACCAGCATCCGTCCATGGAA	0.418000													17	77					7.87624e-14	1.09921e-13	0.002780	1	0
SEMA5A	9037	broad.mit.edu	37	5	9119147	9119147	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9119147C>A	ENST00000382496.5	-	15	2553	c.1888G>T	c.(1888-1890)Ggg>Tgg	p.G630W		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	630	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCCGGCCCCCGTGCCTGGGA	0.677000													20	39					3.51602e-12	4.78088e-12	0.008871	1	0
CSMD3	114788	broad.mit.edu	37	8	113317077	113317077	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113317077G>A	ENST00000297405.5	-	52	8383	c.8139C>T	c.(8137-8139)tcC>tcT	p.S2713S	CSMD3_ENST00000343508.3_Silent_p.S2673S|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Silent_p.S2643S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2713	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCATAATGGGAGCCATTCA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	25					0	0	0.010729	0	0
ACTR6	64431	broad.mit.edu	37	12	100599500	100599500	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:100599500T>A	ENST00000188312.2	+	3	998	c.233T>A	c.(232-234)cTt>cAt	p.L78H	ACTR6_ENST00000552376.1_Missense_Mutation_p.L78H|ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	78						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGGGATTACCTTTTTGGAAAA	0.234000													9	23					0	0	0.008291	0	0
MDN1	23195	broad.mit.edu	37	6	90382061	90382061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90382061G>C	ENST00000369393.3	-	82	13767	c.13652C>G	c.(13651-13653)tCa>tGa	p.S4551*	MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Nonsense_Mutation_p.S4551*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4551					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAGATGTCCTGATTGCAGTCT	0.413000													13	50					0	0	0.001855	0	0
GHRH	2691	broad.mit.edu	37	20	35885221	35885221	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:35885221A>T	ENST00000373614.2	-	2	183	c.72T>A	c.(70-72)ccT>ccA	p.P24P	GHRH_ENST00000237527.3_Silent_p.P24P|GHRH_ENST00000373611.2_Silent_p.P24P			P01286	SLIB_HUMAN	growth hormone releasing hormone	24					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TGAGGGTCAAAGGGGGAGGTG	0.602000													10	36					0	0	0.006214	0	0
CPVL	54504	broad.mit.edu	37	7	29152338	29152338	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:29152338G>C	ENST00000409850.1	-	7	916	c.270C>G	c.(268-270)ttC>ttG	p.F90L	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.F90L|CPVL_ENST00000265394.5_Missense_Mutation_p.F90L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	90					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGAAGAACCAGAAGAAGAGGT	0.493000													34	37					0	0	0.003755	0	0
GPR78	27201	broad.mit.edu	37	4	8588894	8588894	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:8588894G>T	ENST00000382487.4	+	3	1313	c.896G>T	c.(895-897)cGg>cTg	p.R299L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	299					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTGCTCCGCCGGCCGTTCCGC	0.662000													20	64					7.41877e-09	9.51701e-09	0.012319	1	0
LAIR1	3903	broad.mit.edu	37	19	54867571	54867571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54867571C>A	ENST00000391743.3	-	8	935	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	LAIR1_ENST00000474878.1_Missense_Mutation_p.D219Y|LAIR1_ENST00000313038.6_Missense_Mutation_p.D230Y|LAIR1_ENST00000391742.2_Missense_Mutation_p.D237Y|LAIR1_ENST00000434277.2_Missense_Mutation_p.D236Y|LAIR1_ENST00000348231.4_Missense_Mutation_p.D220Y			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	237						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCGAGGTGTCCGTCTCTCTG	0.468000													24	81					7.4402e-23	1.14119e-22	0.003954	1	0
TJP1	7082	broad.mit.edu	37	15	30003139	30003139	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:30003139T>A	ENST00000346128.6	-	24	4742	c.4268A>T	c.(4267-4269)cAg>cTg	p.Q1423L	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423L|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347L|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGAGTGGCCTGGATGGGTTC	0.522000													74	163					0	0	0.014410	0	0
MIA3	375056	broad.mit.edu	37	1	222803552	222803552	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:222803552G>C	ENST00000344922.5	+	4	3015	c.2990G>C	c.(2989-2991)cGt>cCt	p.R997P	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.R997P|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	997					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTTGATACTCGTGTGGCTGAA	0.408000													32	52					0	0	0.008361	0	0
ASB8	140461	broad.mit.edu	37	12	48543741	48543741	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48543741T>C	ENST00000317697.3	-	4	444	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ASB8_ENST00000536071.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.Y92C|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	92					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTCTGCTGCATAGTGGAGGGC	0.498000													22	50					0	0	0.012319	0	0
NAF1	92345	broad.mit.edu	37	4	164087774	164087774	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:164087774G>A	ENST00000274054.2	-	1	299	c.106C>T	c.(106-108)Cct>Tct	p.P36S	NAF1_ENST00000422287.2_Missense_Mutation_p.P36S	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	36					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CCTGGCACAGGGGCAGAGCCC	0.667000													8	18					0	0	0.006214	0	0
COL2A1	1280	broad.mit.edu	37	12	48389061	48389061	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48389061G>C	ENST00000380518.3	-	11	903	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	COL2A1_ENST00000337299.6_Missense_Mutation_p.P178A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	247	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P178S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCCAGGGGGACCAGGAGGA	0.502000													19	112					0	0	0.010504	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046528	69046528	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:69046528G>T	ENST00000497079.1	+	8	1497	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L	ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000479844.1_Intron			P42331	RHG25_HUMAN	Rho GTPase activating protein 25	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTGCTCTCGGGTGGCAATT	0.522000													7	22					2.7689e-08	3.48859e-08	0.001984	1	0
ASB15	142685	broad.mit.edu	37	7	123270163	123270163	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:123270163C>A	ENST00000451558.1	+	13	2105	c.1584C>A	c.(1582-1584)cgC>cgA	p.R528R	ASB15_ENST00000540573.1_Silent_p.R528R|ASB15_ENST00000434204.1_Silent_p.R528R|ASB15_ENST00000451215.1_Silent_p.R528R|ASB15_ENST00000275699.3_Silent_p.R528R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	528	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAAATCCGCCAAATACTAG	0.353000													20	49					5.35267e-07	6.54902e-07	0.007413	1	0
MAGEL2	54551	broad.mit.edu	37	15	23889144	23889144	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:23889144C>A	ENST00000532292.1	-	1	2031	c.1937G>T	c.(1936-1938)cGc>cTc	p.R646L		NM_019066.4	NP_061939.3			MAGE-like 2									p.R646H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACCTATTAGCGGGGAGGGGG	0.582000													3	27					0.004672	0.00514163	0.004672	1	0
AC015849.16	0	broad.mit.edu	37	17	34236333	34236333	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:34236333G>A	ENST00000587132.1	-	0	1694																											TTTTTCAGGGGTGTAGAATGT	0.468000													25	67					0	0	0.002780	0	0
WDR25	79446	broad.mit.edu	37	14	100934422	100934422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:100934422G>C	ENST00000335290.6	+	3	1113	c.887G>C	c.(886-888)cGg>cCg	p.R296P	WDR25_ENST00000402312.3_Missense_Mutation_p.R296P|WDR25_ENST00000554998.1_Missense_Mutation_p.R296P|WDR25_ENST00000542471.2_Missense_Mutation_p.R39P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	296										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAGGCAGTGCGGGCCGCCCGG	0.617000													37	125					0	0	0.007835	0	0
KIAA0101	9768	broad.mit.edu	37	15	64673546	64673546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:64673546C>T	ENST00000300035.4	-	1	163	c.25G>A	c.(25-27)Gtt>Att	p.V9I	KIAA0101_ENST00000560234.1_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.V9I|KIAA0101_ENST00000380258.2_Missense_Mutation_p.V9I|KIAA0101_ENST00000558008.1_Missense_Mutation_p.V9I	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	9						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTGCCTGGAACACTGTCTGCT	0.592000													61	256					0	0	0.014410	0	0
XPO1	7514	broad.mit.edu	37	2	61760930	61760930	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:61760930A>G	ENST00000401558.2	-	2	830	c.103T>C	c.(103-105)Tta>Cta	p.L35L	XPO1_ENST00000406957.1_Silent_p.L35L|XPO1_ENST00000404992.2_Silent_p.L35L|XPO1_ENST00000481214.1_5'UTR	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	35	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CCATGGTATAAGCAATTCACC	0.368000			Mis		CLL								16	45					0	0	0.006122	0	0
BCHE	590	broad.mit.edu	37	3	165548790	165548790	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:165548790C>A	ENST00000264381.3	-	2	198	c.32G>T	c.(31-33)aGa>aTa	p.R11I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	11					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAAGAGAAATCTGATGCATAT	0.333000													10	22					0.000673444	0.00075688	0.008291	1	0
ZNF350	59348	broad.mit.edu	37	19	52468462	52468462	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468462G>A	ENST00000243644.4	-	5	1471	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	415					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AACCAGACACGACATATACGC	0.473000													21	49					0	0	0.010504	0	0
NRG4	145957	broad.mit.edu	37	15	76254225	76254225	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:76254225A>G	ENST00000394907.3	-	4	376	c.195T>C	c.(193-195)ttT>ttC	p.F65F	NRG4_ENST00000535975.1_Silent_p.F65F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	65						extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						CCAATGCCACAAAAGCTTCAA	0.393000													100	97					0	0	0.014410	0	0
NCOR2	9612	broad.mit.edu	37	12	124846676	124846676	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124846676C>G	ENST00000356219.3	-	23	3248	c.3093G>C	c.(3091-3093)aaG>aaC	p.K1031N	NCOR2_ENST00000404621.1_Missense_Mutation_p.K1014N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K1014N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K585N|NCOR2_ENST00000405201.1_Missense_Mutation_p.K1032N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K1015N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1032					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACTCACCCTCCTTGTCGGCGG	0.682000													5	11					0	0	0.000602	0	0
DNAH8	1769	broad.mit.edu	37	6	38867649	38867649	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:38867649C>A	ENST00000359357.3	+	60	8764	c.8510C>A	c.(8509-8511)gCt>gAt	p.A2837D	DNAH8_ENST00000449981.2_Missense_Mutation_p.A3054D|DNAH8_ENST00000441566.1_Missense_Mutation_p.A2801D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTTTATTGCTGGCTATCAA	0.343000													4	18					2.56e-06	3.05564e-06	0.009096	1	0
IGHG3	3502	broad.mit.edu	37	14	106236650	106236650	+	RNA	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:106236650G>C	ENST00000390551.2	-	0	414																											TGGGCATGGGGGAGGTGTGTC	0.647000													42	246					0	0	0.008740	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594460	70594460	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:70594460A>C	ENST00000260126.3	-	7	2447	c.1741T>G	c.(1741-1743)Tgt>Ggt	p.C581G	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C581G|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C526G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	581	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAGCCAGACAAGGGTTAAAG	0.423000													17	68					0	0	0.004007	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146522	5146522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5146522G>T	ENST00000274181.7	+	3	593	c.455G>T	c.(454-456)cGa>cTa	p.R152L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R152L|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCTTTGCGATCACACAGA	0.537000													38	102					1.58521e-26	2.45514e-26	0.005524	1	0
VPS37B	79720	broad.mit.edu	37	12	123352007	123352007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:123352007C>T	ENST00000267202.2	-	4	895	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	172	Pro-rich.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGGCCAGGGCCTGTGGGAGT	0.642000													35	110					0	0	0.004289	0	0
ZP4	57829	broad.mit.edu	37	1	238046042	238046042	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:238046042G>T	ENST00000366570.4	-	11	1653	c.1495_splice	c.e11+1	p.R499_splice	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	499					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R499C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATACTTACGGAGCTTTTCT	0.403000													10	40					1.76689e-08	2.23948e-08	0.006214	1	0
SH2D6	284948	broad.mit.edu	37	2	85662935	85662935	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:85662935G>C	ENST00000389938.2	+	19	1617	c.303G>C	c.(301-303)agG>agC	p.R101S	SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R133S			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	133	SH2.									central_nervous_system(1)|lung(2)	3						GGGAGGGCAGGAACCGTGAGG	0.637000													5	5					0	0	0.001168	0	0
ERN1	2081	broad.mit.edu	37	17	62121439	62121439	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:62121439A>G	ENST00000433197.2	-	22	2938	c.2843T>C	c.(2842-2844)aTg>aCg	p.M948T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	948	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCACAGCTCCATGGCCCGGTA	0.662000													41	104					0	0	0.008740	0	0
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103202352C>T	ENST00000428762.1	-	35	5418	c.5259G>A	c.(5257-5259)ggG>ggA	p.G1753G	RELN_ENST00000343529.5_Silent_p.G1753G|RELN_ENST00000424685.2_Silent_p.G1753G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1753					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478000													11	19					0	0	0.008291	0	0
PENK	5179	broad.mit.edu	37	8	57353977	57353977	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:57353977G>C	ENST00000314922.3	-	2	734	c.658C>G	c.(658-660)Cca>Gca	p.P220A	PENK_ENST00000451791.2_Missense_Mutation_p.P220A|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	220					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACCACTCTGGGCGACCTACT	0.537000													47	112					0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	215990367	215990367	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:215990367C>T	ENST00000366943.2	-	48	9928	c.9542G>A	c.(9541-9543)gGa>gAa	p.G3181E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3181E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3181	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAATGTGTCCACAGATAGA	0.388000										HNSCC(13;0.011)			20	65					0	0	0.008871	0	0
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:34078040G>A	ENST00000389232.4	+	66	9516	c.9446G>A	c.(9445-9447)gGt>gAt	p.G3149D	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572000													76	186					0	0	0.014410	0	0
NCAPD2	9918	broad.mit.edu	37	12	6623493	6623493	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6623493G>T	ENST00000315579.5	+	7	1449	c.650G>T	c.(649-651)cGc>cTc	p.R217L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R172L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	217	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGAAGAACCGCCCCACTCGG	0.488000													47	223					4.18559e-23	6.43547e-23	0.014410	1	0
SLF2	55719	broad.mit.edu	37	10	102684054	102684054	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:102684054G>A	ENST00000238961.3	+	5	1444	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	FAM178A_ENST00000370269.3_Silent_p.K432K|FAM178A_ENST00000370271.3_Silent_p.K432K	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	432																	CAGGTACCAAGGAGACTAAGA	0.443000													50	139					0	0	0.014410	0	0
KCNH5	27133	broad.mit.edu	37	14	63453789	63453789	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:63453789C>A	ENST00000322893.7	-	5	818		c.e5+1		KCNH5_ENST00000394968.1_Splice_Site|KCNH5_ENST00000420622.2_Splice_Site|KCNH5_ENST00000394964.2_Splice_Site	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5						regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCATACTTACTTCAGCTAGT	0.378000													27	66					7.68411e-24	1.18432e-23	0.008361	1	0
CCDC34	91057	broad.mit.edu	37	11	27379017	27379017	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27379017G>C	ENST00000317945.6	-	2	470	c.431C>G	c.(430-432)cCa>cGa	p.P144R	CCDC34_ENST00000328697.6_Missense_Mutation_p.P144R	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	144										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CACCTCCCATGGTGTCAGGCG	0.418000													34	61					0	0	0.003271	0	0
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:109689499A>C	ENST00000277225.5	+	3	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	ZNF462_ENST00000457913.1_Silent_p.P1102P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCCCCCCCACAACCCCCGC	0.527000													3	23					0	0	0.004482	0	0
MAN2C1	4123	broad.mit.edu	37	15	75648457	75648457	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75648457G>C	ENST00000565683.1	-	25	3052	c.3041C>G	c.(3040-3042)gCc>gGc	p.A1014G	MAN2C1_ENST00000267978.5_Missense_Mutation_p.A997G|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974G|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898G	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	997					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGGATGGCCTCCTGAAC	0.672000													10	49					0	0	0.010729	0	0
ZNF407	55628	broad.mit.edu	37	18	72344576	72344576	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:72344576G>T	ENST00000299687.5	+	1	1601	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	ZNF407_ENST00000577538.1_Missense_Mutation_p.G534V|ZNF407_ENST00000582337.1_Missense_Mutation_p.G534V|ZNF407_ENST00000309902.6_Missense_Mutation_p.G534V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACAGACTGTGGGCAAGTAGCT	0.517000													71	183					4.60868e-44	7.4466e-44	0.014410	1	0
ASPM	259266	broad.mit.edu	37	1	197070947	197070947	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197070947T>C	ENST00000367409.4	-	18	7690	c.7434A>G	c.(7432-7434)caA>caG	p.Q2478Q	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2478	IQ 26.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTGCATTTCTTGTAACTTCT	0.363000													23	88					0	0	0.012319	0	0
SGTA	6449	broad.mit.edu	37	19	2757734	2757734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:2757734C>A	ENST00000221566.2	-	10	945	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	262					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTGGTGCCGGGAGTTCCC	0.677000													4	6					0.00024832	0.000282081	0.009096	1	0
ZFHX3	463	broad.mit.edu	37	16	72991344	72991344	+	Missense_Mutation	SNP	C	C	G	rs148024459	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:72991344C>G	ENST00000268489.5	-	2	3373	c.2701G>C	c.(2701-2703)Gcc>Ccc	p.A901P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	901					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGTCATGGCGGCCATGGGC	0.547000													59	42					0	0	0.014410	0	0
OTOF	9381	broad.mit.edu	37	2	26696031	26696031	+	Silent	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:26696031T>G	ENST00000272371.2	-	29	3828	c.3702A>C	c.(3700-3702)ccA>ccC	p.P1234P	OTOF_ENST00000338581.6_Silent_p.P487P|OTOF_ENST00000403946.3_Silent_p.P1234P|OTOF_ENST00000402415.3_Silent_p.P544P|OTOF_ENST00000339598.3_Silent_p.P487P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1234					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAGCGGTCTGGGGGCCGGT	0.682000													16	44					0	0	0.004007	0	0
CTGF	1490	broad.mit.edu	37	6	132270617	132270617	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:132270617G>A	ENST00000367976.3	-	5	1037	c.837C>T	c.(835-837)taC>taT	p.Y279Y		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	279	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ATTTAGCTCGGTATGTCTTCA	0.537000													83	307					0	0	0.014410	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86915782	86915782	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:86915782T>C	ENST00000395184.1	+	9	1441	c.975T>C	c.(973-975)caT>caC	p.H325H	ARHGAP24_ENST00000264343.4_Silent_p.H232H|ARHGAP24_ENST00000395183.2_Silent_p.H230H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	325	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTAGCAAACATGATTGCCTCT	0.418000													46	125					0	0	0.010771	0	0
NSD1	64324	broad.mit.edu	37	5	176709508	176709508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:176709508G>T	ENST00000439151.2	+	19	5980	c.5935G>T	c.(5935-5937)Gaa>Taa	p.E1979*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1876*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1710*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1710*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1979	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATAGATGAAGAAGAATGCAG	0.378000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			33	65					5.91797e-21	8.905e-21	0.012213	1	0
FOLH1B	219595	broad.mit.edu	37	11	89402587	89402587	+	RNA	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:89402587C>T	ENST00000532352.1	+	0	824							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATGGGTGGCTCAGCACCACCA	0.378000													15	37					0	0	0.004007	0	0
PIGA	5277	broad.mit.edu	37	X	15344163	15344163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:15344163C>T	ENST00000333590.4	-	3	805	c.721G>A	c.(721-723)Gat>Aat	p.D241N	PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.D7N	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	241					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CTAAGCAAATCGATCCCTGAA	0.303000													24	32					0	0	0.002780	0	0
STXBP3	6814	broad.mit.edu	37	1	109315300	109315300	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:109315300A>G	ENST00000370008.3	+	7	502	c.452A>G	c.(451-453)gAt>gGt	p.D151G	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	151	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TATACTCTTGATGTACCAGAT	0.313000													11	25					0	0	0.010729	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547524	125547524	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:125547524C>A	ENST00000431078.1	+	18	3159	c.2795C>A	c.(2794-2796)tCc>tAc	p.S932Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	932	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S932Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCATTCGCTCCTTACACTTG	0.493000													26	41					1.1804e-14	1.6583e-14	0.003954	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106579253	106579253	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:106579253C>A	ENST00000526355.1	-	7	2444	c.1976G>T	c.(1975-1977)aGc>aTc	p.S659I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S680I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S690I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	659					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGTGGTTGGGCTGACATTGAT	0.502000													15	42					2.31682e-05	2.69447e-05	0.003163	1	0
NTM	50863	broad.mit.edu	37	11	132180115	132180115	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:132180115G>A	ENST00000374786.1	+	5	1250	c.771G>A	c.(769-771)aaG>aaA	p.K257K	NTM_ENST00000425719.2_Silent_p.K257K|NTM_ENST00000374784.1_Silent_p.K257K|NTM_ENST00000374791.3_Silent_p.K257K|NTM_ENST00000539799.1_Silent_p.K257K|NTM_ENST00000427481.2_Silent_p.K248K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	257	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGGTACAAGGATGACAAAA	0.512000													53	137					0	0	0.014410	0	0
NCAM2	4685	broad.mit.edu	37	21	22746287	22746287	+	Silent	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:22746287A>C	ENST00000400546.1	+	9	1398	c.1149A>C	c.(1147-1149)gcA>gcC	p.A383A	NCAM2_ENST00000284894.7_Silent_p.A241A|NCAM2_ENST00000535285.1_Silent_p.A408A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	383	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGAAGCTGCAAGCAGAATTG	0.393000													12	43					0	0	0.010729	0	0
ZFAT	57623	broad.mit.edu	37	8	135614050	135614050	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:135614050C>A	ENST00000520727.1	-	7	2175	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	ZFAT_ENST00000429442.2_Missense_Mutation_p.A626S|ZFAT_ENST00000523399.1_Missense_Mutation_p.A576S|ZFAT_ENST00000520356.1_Missense_Mutation_p.A626S|ZFAT_ENST00000520214.1_Missense_Mutation_p.A626S|ZFAT_ENST00000377838.3_Missense_Mutation_p.A638S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCACTCTGGGCCTTGGACAGC	0.597000													21	76					3.5997e-14	5.04594e-14	0.014323	1	0
KIAA0100	9703	broad.mit.edu	37	17	26964893	26964893	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:26964893C>T	ENST00000528896.2	-	14	1806	c.1732G>A	c.(1732-1734)Gtc>Atc	p.V578I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.V435I|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V435I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	578						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGTCTTCGACCTTCAAGTCC	0.473000													17	41					0	0	0.004007	0	0
INPP4B	8821	broad.mit.edu	37	4	143130163	143130163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:143130163C>A	ENST00000513000.1	-	14	1286	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.E285*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.E285*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.E285*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.E285*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	285					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCACCAAGTTCTTTTATCTCC	0.363000													10	42					2.27111e-07	2.8003e-07	0.013537	1	0
PTGFRN	5738	broad.mit.edu	37	1	117487467	117487467	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117487467C>T	ENST00000393203.2	+	3	732	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	195	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCAGGCGGAGCGTCCTCGCCC	0.751000													4	11					0	0	0.009096	0	0
UNC13C	440279	broad.mit.edu	37	15	54860126	54860126	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:54860126A>G	ENST00000545554.1	+	29	6087	c.6087A>G	c.(6085-6087)atA>atG	p.I2029M	UNC13C_ENST00000260323.11_Missense_Mutation_p.I2029M|UNC13C_ENST00000537900.1_Missense_Mutation_p.I2027M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2029					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGAAATTCATAGATACTCAAA	0.328000													3	6					0	0	0.004672	0	0
TECPR1	25851	broad.mit.edu	37	7	97874270	97874270	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:97874270G>A	ENST00000447648.2	-	4	634	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TECPR1_ENST00000379795.3_Missense_Mutation_p.P112L|TECPR1_ENST00000542604.1_Missense_Mutation_p.P33L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	112						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGCGGCGAGGGCAGTGCCAC	0.622000													8	22					0	0	0.003080	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926430	67926430	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67926430C>T	ENST00000304363.4	-	11	1736	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTTTTGCTCCAGCCGCTTGC	0.348000													16	69					0	0	0.003163	0	0
DBR1	51163	broad.mit.edu	37	3	137881194	137881194	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:137881194T>A	ENST00000260803.4	-	8	1325	c.1172A>T	c.(1171-1173)cAt>cTt	p.H391L	DBR1_ENST00000505015.2_Missense_Mutation_p.H157L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	391						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACCACACACATGATGTTCTTC	0.408000													15	36					0	0	0.004990	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891714	5891714	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5891714G>T	ENST00000581347.1	-	3	994	c.349C>A	c.(349-351)Cct>Act	p.P117T	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P117T			A6NKL6	T200C_HUMAN	transmembrane protein 200C	117						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGCCCTAGGGTGGCTCCTG	0.706000													19	81					6.33239e-15	8.9556e-15	0.010504	1	0
CECR6	27439	broad.mit.edu	37	22	17601355	17601355	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:17601355G>T	ENST00000331437.3	-	1	788	c.663C>A	c.(661-663)gcC>gcA	p.A221A	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	221										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGTCGGTGACGGCGATGAGGT	0.706000													4	20					0.00909568	0.00994106	0.009096	1	0
SLC28A1	9154	broad.mit.edu	37	15	85488082	85488082	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85488082C>T	ENST00000394573.1	+	18	2060	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	SLC28A1_ENST00000286749.3_Missense_Mutation_p.R620C|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.R620C|SLC28A1_ENST00000538177.1_Missense_Mutation_p.R454C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	620					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAGTGCTGCCGTGAGGCCTT	0.592000													36	54					0	0	0.013726	0	0
PCLO	27445	broad.mit.edu	37	7	82784850	82784850	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82784850A>G	ENST00000423517.2	-	2	1444	c.1107T>C	c.(1105-1107)gcT>gcC	p.A369A	PCLO_ENST00000333891.8_Silent_p.A369A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	329	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGAGGCTTAGCAGGACCAA	0.577000													11	36					0	0	0.010729	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239631	65239631	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65239631C>A	ENST00000380230.3	+	13	1198	c.1169C>A	c.(1168-1170)cCc>cAc	p.P390H	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.P358H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.P267H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.P390H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	390					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGGACCACCCCAGTGATCCC	0.607000													8	26					0.00307968	0.00341291	0.003080	1	0
PLXNC1	10154	broad.mit.edu	37	12	94641821	94641821	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94641821C>G	ENST00000258526.4	+	13	2780	c.2531C>G	c.(2530-2532)cCc>cGc	p.P844R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	844					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGGGAGGACCCCAGATTCACG	0.493000													19	58					0	0	0.007413	0	0
LOC645166	645166	broad.mit.edu	37	1	148932810	148932810	+	RNA	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:148932810G>T	ENST00000539543.1	+	0	66					NR_027355.1																						CCCCAAGCTAGCCCGCCAGGC	0.597000													22	141					3.6726e-16	5.27625e-16	0.003954	1	0
CRYGB	1419	broad.mit.edu	37	2	209010545	209010545	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209010545A>G	ENST00000260988.4	-	2	252	c.205T>C	c.(205-207)Tgg>Cgg	p.W69R		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	69	Beta/gamma crystallin 'Greek key' 2.	Susceptible to oxidation.			visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGGCCCATCCATTGCTGGTAG	0.572000													21	44					0	0	0.008871	0	0
TBL2	26608	broad.mit.edu	37	7	72985558	72985558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:72985558G>A	ENST00000305632.5	-	6	1080	c.839C>T	c.(838-840)gCg>gTg	p.A280V	TBL2_ENST00000432538.1_Missense_Mutation_p.A244V|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	280										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCACAGCCGCGGAGTGGCC	0.567000													15	44					0	0	0.002450	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136849	80136849	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:80136849C>A	ENST00000466387.1	+	11	1706	c.982C>A	c.(982-984)Cgc>Agc	p.R328S	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R362S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R328S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R328S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	328					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGACGACCGGCGCGAGAGGAT	0.637000													27	94					4.22769e-11	5.67566e-11	0.006320	1	0
TRDN	10345	broad.mit.edu	37	6	123687329	123687329	+	Splice_Site	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:123687329T>C	ENST00000334268.4	-	20	1591		c.e20-2		TRDN_ENST00000398178.3_Splice_Site			Q13061	TRDN_HUMAN	triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTTCAGTTTCTGCAAGTTCAG	0.308000													5	25					0	0	0.000602	0	0
HIST1H4K	8362	broad.mit.edu	37	6	27799255	27799255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:27799255C>A	ENST00000357549.2	-	1	50	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	17					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						TACGGTGGCGCTTAGCGCCGC	0.642000													11	107					6.44725e-10	8.49379e-10	0.014323	1	0
ARIH2	10425	broad.mit.edu	37	3	49020700	49020700	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49020700C>G	ENST00000356401.4	+	16	1818	c.1479C>G	c.(1477-1479)acC>acG	p.T493T	RP13-131K19.1_ENST00000415982.1_RNA|ARIH2_ENST00000449376.1_Silent_p.T493T|RP13-131K19.1_ENST00000429681.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	493					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCATGACACCTAAGTTGGGA	0.547000													49	125					0	0	0.014410	0	0
IGHG3	3502	broad.mit.edu	37	14	106236462	106236462	+	RNA	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:106236462G>C	ENST00000390551.2	-	0	459																											TGGGCACGGGGGAGGTGTGTC	0.637000													13	27					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113249531	113249531	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113249531G>C	ENST00000297405.5	-	67	10759	c.10515C>G	c.(10513-10515)taC>taG	p.Y3505*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y3465*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y3336*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y3435*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3505						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGAAATTGTAAGAGCCTT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	50					0	0	0.006214	0	0
SORL1	6653	broad.mit.edu	37	11	121485640	121485640	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:121485640G>T	ENST00000260197.7	+	41	5609	c.5480G>T	c.(5479-5481)gGg>gTg	p.G1827V	SORL1_ENST00000527934.1_Missense_Mutation_p.G442V|SORL1_ENST00000525532.1_Missense_Mutation_p.G771V|SORL1_ENST00000534286.1_Missense_Mutation_p.G737V|SORL1_ENST00000532694.1_Missense_Mutation_p.G673V	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1827	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGACTTGGGGGATAGCCCT	0.517000													30	56					5.77227e-19	8.60421e-19	0.008361	1	0
PAH	5053	broad.mit.edu	37	12	103232972	103232972	+	Missense_Mutation	SNP	G	G	A	rs76542238		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:103232972G>A	ENST00000553106.1	-	13	1812	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	PAH_ENST00000307000.2_Missense_Mutation_p.A442V	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	447			A -> D (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTGGAGGGCACTGCAAAG	0.398000													12	34					0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71825794	71825794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:71825794G>T	ENST00000258104.3	+	33	3898	c.3621G>T	c.(3619-3621)gaG>gaT	p.E1207D	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.E1239D|DYSF_ENST00000413539.2_Missense_Mutation_p.E1238D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1225D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1194D|DYSF_ENST00000410041.1_Missense_Mutation_p.E1225D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1207D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1208D|DYSF_ENST00000409762.1_Missense_Mutation_p.E1224D|DYSF_ENST00000394120.2_Missense_Mutation_p.E1208D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1224D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1207	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTTCTACGAGATCGAGATCT	0.567000													29	55					5.45727e-16	7.80488e-16	0.008361	1	0
ADIPOR2	79602	broad.mit.edu	37	12	1895200	1895200	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:1895200A>G	ENST00000357103.4	+	8	1374	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	375					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCGTTTCATGATCGGCGG	0.537000													90	101					0	0	0.014410	0	0
AGO4	192670	broad.mit.edu	37	1	36298098	36298098	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:36298098G>T	ENST00000373210.3	+	11	1551	c.1306G>T	c.(1306-1308)Gct>Tct	p.A436S		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GCAGTTTTATGCTGGCATTGA	0.368000													23	55					1.50039e-11	2.02712e-11	0.012319	1	0
FH	2271	broad.mit.edu	37	1	241669303	241669303	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:241669303C>A	ENST00000366560.3	-	6	942	c.904_splice	c.e6+1	p.G302_splice		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	302					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATCACTAACCTGTAAGTGCA	0.388000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				15	31					2.31682e-05	2.69447e-05	0.003163	1	0
TMC4	147798	broad.mit.edu	37	19	54668180	54668180	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54668180G>A	ENST00000376591.4	-	7	1250	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	TMC4_ENST00000301187.4_Silent_p.T367T	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	373						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGCTCCACGGTGCACCCCG	0.632000													55	134					0	0	0.014410	0	0
BMPER	168667	broad.mit.edu	37	7	34125437	34125437	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:34125437T>G	ENST00000297161.2	+	14	1852	c.1478T>G	c.(1477-1479)cTc>cGc	p.L493R	BMPER_ENST00000426693.1_Missense_Mutation_p.L493R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	493	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGGGCAAGCTCTGTGGTCTT	0.443000													32	50					0	0	0.009535	0	0
RYR2	6262	broad.mit.edu	37	1	237780711	237780711	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237780711C>A	ENST00000366574.2	+	38	6158	c.5841C>A	c.(5839-5841)gtC>gtA	p.V1947V	RYR2_ENST00000542537.1_Silent_p.V1931V|RYR2_ENST00000360064.6_Silent_p.V1945V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACGAAGTCATGCAAGCCT	0.443000													16	40					5.01169e-05	5.79677e-05	0.004990	1	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:34149264C>T	ENST00000346193.3	-	1	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	378								p.E378*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000													32	26					0	0	0.008361	0	0
LEPREL2	10536	broad.mit.edu	37	12	6940435	6940435	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6940435G>A	ENST00000251761.8	+	0	1074				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2									p.P346P(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TCTTCTACCCGGAGGATGAGG	0.587000													25	154					0	0	0.003330	0	0
PLXNA2	5362	broad.mit.edu	37	1	208224624	208224624	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:208224624G>C	ENST00000367033.3	-	16	3895	c.3138C>G	c.(3136-3138)atC>atG	p.I1046M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1046	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTCTGGCTCGATGCGCTGGA	0.592000													9	38					0	0	0.004482	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137641	40137641	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:40137641G>C	ENST00000278198.2	-	2	2165	c.202C>G	c.(202-204)Cgt>Ggt	p.R68G	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R68G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	68	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGAACCTCACGCAGGTTTTTC	0.527000													20	47					0	0	0.007413	0	0
TNIK	23043	broad.mit.edu	37	3	170945955	170945955	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170945955C>A	ENST00000436636.2	-	3	523	c.180_splice	c.e3+1	p.G60_splice	TNIK_ENST00000369326.5_Splice_Site_p.G60_splice|TNIK_ENST00000341852.6_Splice_Site_p.G60_splice|TNIK_ENST00000284483.8_Splice_Site_p.G60_splice|TNIK_ENST00000460047.1_Splice_Site_p.G60_splice|TNIK_ENST00000357327.5_Splice_Site_p.G60_splice|TNIK_ENST00000470834.1_Splice_Site_p.G60_splice|TNIK_ENST00000538048.1_Splice_Site_p.G60_splice|TNIK_ENST00000488470.1_Splice_Site_p.G60_splice|TNIK_ENST00000475336.1_Splice_Site_p.G60_splice	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	60	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GACACTTACCCCTGTGACATC	0.398000													15	51					4.7546e-09	6.12408e-09	0.004007	1	0
CTBP2	1488	broad.mit.edu	37	10	126715632	126715632	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:126715632C>G	ENST00000309035.6	-	1	827	c.697G>C	c.(697-699)Gtt>Ctt	p.V233L	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	391					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGTCCACAACCAGGCACGTC	0.677000													38	73					0	0	0.005524	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279485	217279485	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:217279485G>T	ENST00000357276.4	+	3	388	c.58G>T	c.(58-60)Gct>Tct	p.A20S	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A20S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	20					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCGACAAAAGGCTCTGGCCCG	0.493000									Schimke Immuno-Osseous Dysplasia				53	75					6.81593e-30	1.07397e-29	0.014410	1	0
PTCH2	8643	broad.mit.edu	37	1	45294273	45294273	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:45294273C>G	ENST00000447098.2	-	12	1506	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	PTCH2_ENST00000372192.3_Missense_Mutation_p.G499R	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	499	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACACTGGTGCCCGTGCGCTGC	0.632000									Basal Cell Nevus syndrome				5	14					0	0	0.000602	0	0
PLCXD1	55344	broad.mit.edu	37	X	209702	209702	+	Splice_Site	SNP	G	G	T	rs146046082		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:209702G>T	ENST00000381657.2	+	6	1064	c.549_splice	c.e6-1	p.E184_splice	PLCXD1_ENST00000381663.3_Splice_Site_p.E184_splice|PLCXD1_ENST00000399012.1_Splice_Site_p.E184_splice	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	184	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTTTGCAGGAGGTGCCGAC	0.667000													8	35					5.18039e-06	6.12579e-06	0.003080	1	0
BSN	8927	broad.mit.edu	37	3	49691751	49691751	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49691751C>G	ENST00000296452.4	+	5	4876	c.4762C>G	c.(4762-4764)Cag>Gag	p.Q1588E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1588					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TACTGAAACCCAGCCCACCAC	0.627000													18	33					0	0	0.006122	0	0
MSH4	4438	broad.mit.edu	37	1	76343943	76343943	+	Missense_Mutation	SNP	A	A	G	rs116549128	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76343943A>G	ENST00000263187.3	+	11	1584	c.1480A>G	c.(1480-1482)Ata>Gta	p.I494V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	494					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTCTAACATAAATGAATT	0.318000								Mismatch excision repair (MMR)					11	24					0	0	0.013537	0	0
DGCR14	8220	broad.mit.edu	37	22	19121856	19121856	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:19121856G>T	ENST00000252137.6	-	10	1327	c.1284C>A	c.(1282-1284)ctC>ctA	p.L428L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	428					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCGGGGTCTTGAGGTGGGTGG	0.687000													10	30					7.48243e-07	9.08478e-07	0.006214	1	0
REG3A	5068	broad.mit.edu	37	2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:79384406C>A	ENST00000393878.1	-	5	728	c.474G>T	c.(472-474)tgG>tgT	p.W158C	REG3A_ENST00000409839.3_Missense_Mutation_p.W158C|REG3A_ENST00000305165.2_Missense_Mutation_p.W158C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	158	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TATAATCTTTCCACCTCAGAA	0.458000													19	35					3.51602e-12	4.78088e-12	0.008871	1	0
PIEZO2	63895	broad.mit.edu	37	18	10696112	10696112	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:10696112G>C	ENST00000302079.6	-	43	6810	c.6811C>G	c.(6811-6813)Cac>Gac	p.H2271D	PIEZO2_ENST00000503781.3_Missense_Mutation_p.H2271D|PIEZO2_ENST00000285141.4_Missense_Mutation_p.H126D|PIEZO2_ENST00000580640.1_Missense_Mutation_p.H2296D|PIEZO2_ENST00000538948.1_Missense_Mutation_p.H228D			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2271						integral to membrane	ion channel activity										ATCCAGAAGTGAATTCCGAAC	0.502000													31	116					0	0	0.008361	0	0
TBC1D1	23216	broad.mit.edu	37	4	38047458	38047458	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:38047458G>A	ENST00000261439.4	+	10	1918	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L	TBC1D1_ENST00000508802.1_Silent_p.L521L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	521						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAGAGGCCTGCAGGAACACT	0.443000													26	87					0	0	0.005443	0	0
ZNF513	130557	broad.mit.edu	37	2	27603383	27603383	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:27603383C>T	ENST00000323703.6	-	1	209	c.11G>A	c.(10-12)aGg>aAg	p.R4K		NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	4					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTGCTTCCTTCGGGGCAT	0.711000													4	9					0	0	0.000602	0	0
LILRB1	10859	broad.mit.edu	37	19	55143548	55143548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55143548C>G	ENST00000396331.1	+	6	878	c.521C>G	c.(520-522)gCc>gGc	p.A174G	LILRB1_ENST00000427581.2_Missense_Mutation_p.A210G|LILRB1_ENST00000396317.1_Missense_Mutation_p.A174G|LILRB1_ENST00000396327.3_Missense_Mutation_p.A174G|LILRB1_ENST00000396321.2_Missense_Mutation_p.A174G|LILRB1_ENST00000396315.1_Missense_Mutation_p.A174G|LILRB1_ENST00000448689.1_Missense_Mutation_p.A174G|LILRB1_ENST00000418536.2_Missense_Mutation_p.A174G|LILRB1_ENST00000396332.4_Missense_Mutation_p.A174G|LILRB1_ENST00000324602.7_Missense_Mutation_p.A174G|LILRB1_ENST00000434867.2_Missense_Mutation_p.A174G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	174	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGCCCCATGCCCGTGGGTCG	0.572000										HNSCC(37;0.09)			38	92					0	0	0.006230	0	0
LAMA2	3908	broad.mit.edu	37	6	129380955	129380955	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:129380955G>A	ENST00000421865.2	+	3	359	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	104	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAATGCTATTGATGGAAAGAA	0.358000													10	23					0	0	0.013537	0	0
ITIH4	3700	broad.mit.edu	37	3	52857966	52857966	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52857966C>T	ENST00000266041.4	-	10	1322	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.R409Q|ITIH4_ENST00000346281.5_Missense_Mutation_p.R409Q|ITIH4_ENST00000485816.1_Missense_Mutation_p.R409Q|ITIH4_ENST00000434759.3_Missense_Mutation_p.R321Q	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	409	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582000													17	23					0	0	0.004007	0	0
COL9A1	1297	broad.mit.edu	37	6	70952405	70952405	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:70952405T>A	ENST00000357250.6	-	29	2044	c.1886A>T	c.(1885-1887)gAa>gTa	p.E629V	COL9A1_ENST00000320755.7_Missense_Mutation_p.E386V|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E386V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	629	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGTCCTAATTCTCCTCTACT	0.348000													21	48					0	0	0.003954	0	0
LHX9	56956	broad.mit.edu	37	1	197896918	197896918	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197896918T>C	ENST00000367390.3	+	5	931	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L	LHX9_ENST00000367391.1_Silent_p.L302L|LHX9_ENST00000561173.1_Silent_p.L317L|LHX9_ENST00000367387.4_Silent_p.L311L|LHX9_ENST00000337020.2_Silent_p.L311L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	311					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CAAAAGAGTTTTGCAGGTAAG	0.483000													17	63					0	0	0.004007	0	0
FCGBP	8857	broad.mit.edu	37	19	40357440	40357440	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40357440C>A	ENST00000221347.6	-	34	15880	c.15873G>T	c.(15871-15873)gtG>gtT	p.V5291V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5291	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCTGGCCCACAGCCTCCG	0.547000													21	71					1.2644e-06	1.51776e-06	0.010504	1	0
KCNK7	10089	broad.mit.edu	37	11	65360635	65360635	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65360635G>C	ENST00000340313.4	-	3	988	c.765C>G	c.(763-765)acC>acG	p.T255T	KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	255						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						GCTCAGAGAAGGTCTCCACTG	0.612000													6	20					0	0	0.001168	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489138	5489138	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5489138C>T	ENST00000341928.2	-	2	385	c.45G>A	c.(43-45)caG>caA	p.Q15Q	EPB41L3_ENST00000544123.1_Silent_p.Q15Q|EPB41L3_ENST00000540638.2_Silent_p.Q15Q|EPB41L3_ENST00000400111.3_Silent_p.Q15Q|EPB41L3_ENST00000342933.3_Silent_p.Q15Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	15					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTCGGCCTCCTGGTCCGGCT	0.667000													21	75					0	0	0.012319	0	0
OR52H1	390067	broad.mit.edu	37	11	5566075	5566075	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5566075C>T	ENST00000322653.4	-	1	704	c.679G>A	c.(679-681)Gca>Aca	p.A227T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A227T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGTGTGCGTAGGAAACA	0.498000													16	44					0	0	0.004007	0	0
WDR17	116966	broad.mit.edu	37	4	177056354	177056354	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177056354T>C	ENST00000393643.2	+	8	1446	c.1194T>C	c.(1192-1194)gaT>gaC	p.D398D	WDR17_ENST00000507824.2_Silent_p.D405D|WDR17_ENST00000508596.1_Silent_p.D398D|WDR17_ENST00000280190.4_Silent_p.D422D	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	422										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGTCTGGGATATAAACACAT	0.383000													19	37					0	0	0.008871	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590917	83590917	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:83590917T>C	ENST00000265362.3	-	17	2400	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T696A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	696					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCTAGGTGTCATGCTATTG	0.438000													31	81					0	0	0.009535	0	0
LZTS3	9762	broad.mit.edu	37	20	3147647	3147647	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:3147647C>A	ENST00000329152.3	-	1	1560	c.163G>T	c.(163-165)Gtg>Ttg	p.V55L	LZTS3_ENST00000360342.3_Missense_Mutation_p.V55L|LZTS3_ENST00000337576.5_Missense_Mutation_p.V55L	NM_014731.2	NP_055546.1																					CGGGTACCCACGCTCTTCATG	0.736000													11	12					1.58986e-06	1.90484e-06	0.008291	1	0
SNHG14	104472715	broad.mit.edu	37	15	25417815	25417815	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:25417815G>A	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							TTTTCTTGAAGAGAGGTGATG	0.517000													55	173					0	0	0.014410	0	0
GPR63	81491	broad.mit.edu	37	6	97247474	97247474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:97247474C>T	ENST00000229955.3	-	2	479	c.134G>A	c.(133-135)aGa>aAa	p.R45K	GPR63_ENST00000417980.1_Missense_Mutation_p.R45K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	45						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAAACTATATCTAAGCAATGG	0.453000													10	55					0	0	0.006214	0	0
FBXL18	80028	broad.mit.edu	37	7	5541042	5541042	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:5541042C>G	ENST00000382368.3	-	3	981	c.858G>C	c.(856-858)atG>atC	p.M286I	FBXL18_ENST00000453700.3_Missense_Mutation_p.M286I	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	286									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CATTGCGCGCCATGGAGTCCA	0.602000													21	26					0	0	0.010504	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415652	210415652	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:210415652A>G	ENST00000367012.3	+	4	1271	c.1041A>G	c.(1039-1041)aaA>aaG	p.K347K		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	347							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CAAGTAACAAACTGTGCTGCA	0.358000													10	34					0	0	0.008291	0	0
ADORA2A	135	broad.mit.edu	37	22	24829704	24829704	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:24829704G>T	ENST00000337539.7	+	2	791	c.332_splice	c.e2+1	p.R111_splice	KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	111					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATCCCGCTCCGGTGAGCAGGG	0.622000													10	46					1.08611e-07	1.34966e-07	0.010729	1	0
SGTA	6449	broad.mit.edu	37	19	2757733	2757733	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:2757733C>A	ENST00000221566.2	-	10	946	c.785G>T	c.(784-786)gGc>gTc	p.G262V		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	262					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCTGGTGCCGGGAGTTCC	0.677000													4	7					0.00024832	0.000282081	0.009096	1	0
GALNT13	114805	broad.mit.edu	37	2	155157934	155157934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:155157934G>T	ENST00000392825.3	+	9	1555	c.988G>T	c.(988-990)Gga>Tga	p.G330*	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Nonsense_Mutation_p.G330*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	330	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTGGCAATGTGGAGGCTCCTT	0.403000													51	131					1.39843e-22	2.13976e-22	0.014410	1	0
FBLN5	10516	broad.mit.edu	37	14	92349360	92349360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:92349360C>G	ENST00000267620.10	-	9	1092	c.923G>C	c.(922-924)gGc>gCc	p.G308A	FBLN5_ENST00000342058.4_Missense_Mutation_p.G267A|FBLN5_ENST00000556154.1_Missense_Mutation_p.G272A			Q9UBX5	FBLN5_HUMAN	fibulin 5	267	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GAAGTATGTGCCGGGCTGGTT	0.567000													23	74					0	0	0.003330	0	0
KNDC1	85442	broad.mit.edu	37	10	135024220	135024220	+	Silent	SNP	G	G	T	rs144385432		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:135024220G>T	ENST00000304613.3	+	21	3921	c.3900G>T	c.(3898-3900)acG>acT	p.T1300T	KNDC1_ENST00000368572.2_Silent_p.T1302T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1300	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCAACAGCACGCTGACCAGGT	0.612000													36	112					9.8876e-21	1.48081e-20	0.004878	1	0
KLHL4	56062	broad.mit.edu	37	X	86773057	86773057	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:86773057G>T	ENST00000373119.4	+	1	306	c.161G>T	c.(160-162)aGc>aTc	p.S54I	KLHL4_ENST00000373114.4_Missense_Mutation_p.S54I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	54						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGTTGAAGAGCCACTCTCGG	0.542000													23	13					5.45024e-15	7.72523e-15	0.003330	1	0
COL2A1	1280	broad.mit.edu	37	12	48368576	48368576	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48368576G>C	ENST00000380518.3	-	52	4120	c.3956C>G	c.(3955-3957)aCt>aGt	p.T1319S	COL2A1_ENST00000337299.6_Missense_Mutation_p.T1250S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1319	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGTCTCGCCAGTCTCCATGTT	0.547000													36	123					0	0	0.003755	0	0
VGLL3	389136	broad.mit.edu	37	3	87018113	87018113	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:87018113C>A	ENST00000398399.2	-	3	927	c.564G>T	c.(562-564)ccG>ccT	p.P188P	VGLL3_ENST00000383698.3_Silent_p.P188P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGTTGTGTCCCGGCCAAGGAC	0.597000													37	50					8.73648e-17	1.26949e-16	0.004289	1	0
LILRA1	11024	broad.mit.edu	37	19	55106733	55106733	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55106733G>T	ENST00000453777.1	+	5	697	c.527G>T	c.(526-528)gGg>gTg	p.G176V	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G176V|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	176	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGTACCCATGGGTGGTCCCGG	0.562000													43	165					1.47197e-15	2.10045e-15	0.007835	1	0
NCOR2	9612	broad.mit.edu	37	12	124862866	124862866	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124862866G>A	ENST00000356219.3	-	19	2239	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V	NCOR2_ENST00000404621.1_Missense_Mutation_p.A694V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A694V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A265V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A695V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A695V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	695					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCGGGAATGCAGCCTCCTC	0.667000													12	39					0	0	0.013537	0	0
LNX2	222484	broad.mit.edu	37	13	28155627	28155627	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:28155627T>G	ENST00000316334.3	-	2	343	c.214A>C	c.(214-216)Aag>Cag	p.K72Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	72							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTGAGGCACTTGTAGCAGAAT	0.413000													24	28					0	0	0.003330	0	0
CA2	760	broad.mit.edu	37	8	86386585	86386585	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:86386585G>T	ENST00000285379.5	+	4	614	c.384G>T	c.(382-384)ggG>ggT	p.G128G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCAAATATGGGGATTTTGGGA	0.393000													35	111					4.40281e-34	7.02458e-34	0.006999	1	0
ZNF135	7694	broad.mit.edu	37	19	58578900	58578900	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:58578900G>A	ENST00000506786.1	+	5	1476	c.922G>A	c.(922-924)Ggg>Agg	p.G308R	ZNF135_ENST00000401053.4_Missense_Mutation_p.G374R|ZNF135_ENST00000313434.5_Missense_Mutation_p.G350R|ZNF135_ENST00000439855.2_Missense_Mutation_p.G350R|ZNF135_ENST00000511556.1_Missense_Mutation_p.G362R|ZNF135_ENST00000359978.6_Missense_Mutation_p.G362R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	362					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATCCACACTGGGGAGAAACC	0.572000													18	32					0	0	0.007413	0	0
CSK	1445	broad.mit.edu	37	15	75090969	75090969	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75090969C>T	ENST00000220003.9	+	3	758	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CSK_ENST00000567571.1_Missense_Mutation_p.S10F|CSK_ENST00000439220.2_Missense_Mutation_p.S10F|CSK_ENST00000309470.9_Missense_Mutation_p.S10F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	10	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCCTGGCCATCCGGTACAGAA	0.642000													20	23					0	0	0.010504	0	0
CHAT	1103	broad.mit.edu	37	10	50870701	50870701	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50870701G>A	ENST00000395562.2	+	15	2073	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	CHAT_ENST00000351556.3_Missense_Mutation_p.G499E|CHAT_ENST00000337653.2_Missense_Mutation_p.G617E|CHAT_ENST00000339797.1_Missense_Mutation_p.G499E|CHAT_ENST00000395559.2_Missense_Mutation_p.G499E|CHAT_ENST00000455728.2_Missense_Mutation_p.G499E	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	617					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCATAACAGGGATGGCCATT	0.572000													36	84					0	0	0.004289	0	0
DCLK3	85443	broad.mit.edu	37	3	36779796	36779796	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:36779796C>A	ENST00000416516.2	-	2	845	c.355G>T	c.(355-357)Gca>Tca	p.A119S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	119						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCCCCTTGCGTGCCTCTCT	0.567000													54	109					6.3008e-33	9.97758e-33	0.014410	1	0
SEMA5A	9037	broad.mit.edu	37	5	9337825	9337825	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9337825C>A	ENST00000382496.5	-	4	889	c.224_splice	c.e4+1	p.R75_splice		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	75	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TATCTCTCACCTTGCTCCTAC	0.423000													8	35					0.000274275	0.000311008	0.004482	1	0
PMS2	5395	broad.mit.edu	37	7	6042083	6042083	+	Splice_Site	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:6042083C>T	ENST00000265849.7	-	5	643		c.e5+1		PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000406569.3_Splice_Site	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACTGTACCTTCTTAATA	0.408000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	146					0	0	0.006214	0	0
GABRA4	2557	broad.mit.edu	37	4	46981101	46981101	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46981101C>A	ENST00000264318.3	-	3	1202	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	74					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAGTTTTCACTTCTGTAACA	0.343000													14	32					1.49906e-05	1.75304e-05	0.002450	1	0
PSME4	23198	broad.mit.edu	37	2	54125132	54125132	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:54125132A>T	ENST00000404125.1	-	31	3536	c.3481T>A	c.(3481-3483)Tgg>Agg	p.W1161R	PSME4_ENST00000421748.2_Missense_Mutation_p.W305R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCAAATTTCCAGGGCCTTAAA	0.363000													28	85					0	0	0.007291	0	0
DST	667	broad.mit.edu	37	6	56489356	56489356	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:56489356T>C	ENST00000370754.5	-	35	4801	c.4802A>G	c.(4801-4803)gAt>gGt	p.D1601G	DST_ENST00000518935.1_Missense_Mutation_p.D1097G|DST_ENST00000370765.6_Missense_Mutation_p.D1097G|DST_ENST00000361203.3_Missense_Mutation_p.D1423G|DST_ENST00000370788.2_Missense_Mutation_p.D1423G|DST_ENST00000312431.6_Missense_Mutation_p.D1423G|DST_ENST00000446842.2_Missense_Mutation_p.D1097G|DST_ENST00000421834.2_Missense_Mutation_p.D1423G|DST_ENST00000244364.6_Missense_Mutation_p.D1097G|DST_ENST00000370769.4_Missense_Mutation_p.D1423G			Q03001	DYST_HUMAN	dystonin	1423					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCAATGAATCACCAGCAAA	0.393000													8	35					0	0	0.006214	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113133	42113133	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:42113133C>T	ENST00000457542.2	+	23	2871	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S862F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S745F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S701F|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S868F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	868										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCGTTAGATCCATGCTGGAT	0.627000													14	32					0	0	0.003163	0	0
RAVER2	55225	broad.mit.edu	37	1	65278490	65278490	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:65278490T>C	ENST00000294428.3	+	10	1828	c.1750T>C	c.(1750-1752)Tac>Cac	p.Y584H	RAVER2_ENST00000371072.4_Missense_Mutation_p.Y571H|RAVER2_ENST00000430964.2_Missense_Mutation_p.Y123H			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	584						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TAAAAATCCATACTTGAATTT	0.383000													8	33					0	0	0.003080	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834477	125834477	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:125834477G>T	ENST00000299308.3	+	2	540	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	178						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGGCTGCAAGGGGCCCCAGG	0.622000													28	79					8.58068e-18	1.26421e-17	0.007291	1	0
GPRASP1	9737	broad.mit.edu	37	X	101911283	101911283	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:101911283G>C	ENST00000537097.1	+	6	3255	c.2442G>C	c.(2440-2442)tgG>tgC	p.W814C	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W814C|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W814C|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W814C	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	814	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGGGTCCTGGTTTGGGGCCA	0.502000													56	51					0	0	0.014410	0	0
RCAN2	10231	broad.mit.edu	37	6	46214500	46214500	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46214500C>T	ENST00000371374.1	-	4	747	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RCAN2_ENST00000306764.7_Missense_Mutation_p.A186T|RCAN2_ENST00000330430.6_Missense_Mutation_p.A140T|RCAN2_ENST00000405162.1_Missense_Mutation_p.A186T	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	140					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCTAGTTTGGCCACAGCATAG	0.493000													8	31					0	0	0.003080	0	0
NONO	4841	broad.mit.edu	37	X	70514351	70514351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70514351G>A	ENST00000535149.1	+	3	999	c.356G>A	c.(355-357)tGc>tAc	p.C119Y	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.C208Y|NONO_ENST00000373841.1_Missense_Mutation_p.C208Y|NONO_ENST00000373856.3_Missense_Mutation_p.C208Y	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	208	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTGGACAGATGCAGTGAAGGC	0.502000			T	TFE3	papillary renal cancer								6	6					0	0	0.001984	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809211	18809211	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:18809211G>T	ENST00000400664.1	+	1	1788	c.1736G>T	c.(1735-1737)cGg>cTg	p.R579L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	579						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGCCCGGCCGCACTGC	0.711000													9	21					7.48243e-07	9.08478e-07	0.006214	1	0
OR51I2	390064	broad.mit.edu	37	11	5474910	5474910	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5474910C>A	ENST00000341449.2	+	1	273	c.192C>A	c.(190-192)tcC>tcA	p.S64S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTGTCCATGTTGTCCT	0.547000													33	85					9.65021e-13	1.32638e-12	0.010818	1	0
MYO1G	64005	broad.mit.edu	37	7	45005293	45005293	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:45005293G>A	ENST00000258787.7	-	17	2460	c.2324C>T	c.(2323-2325)cCg>cTg	p.P775L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	775						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.P775L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGGGGGCAGCGGCCACACAAG	0.637000													44	43					0	0	0.014410	0	0
SMC5	23137	broad.mit.edu	37	9	72897368	72897368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:72897368G>A	ENST00000361138.5	+	7	908	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	284					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGAATATGAAGAAGTAAAACT	0.353000													16	29					0	0	0.004007	0	0
SYNE1	23345	broad.mit.edu	37	6	152647563	152647563	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:152647563C>A	ENST00000367255.5	-	79	15762	c.15161G>T	c.(15160-15162)aGc>aTc	p.S5054I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4801I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4983I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4983I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5054I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5054					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTACCAGGCTGTGGAGCTC	0.522000										HNSCC(10;0.0054)			20	71					3.51602e-12	4.78088e-12	0.008871	1	0
ABCA13	154664	broad.mit.edu	37	7	48411888	48411888	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48411888G>T	ENST00000435803.1	+	33	10951	c.10927G>T	c.(10927-10929)Gca>Tca	p.A3643S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3643					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGCATCTTTGCACACAGCAA	0.458000													68	116					2.50483e-33	3.97641e-33	0.014410	1	0
MAML3	55534	broad.mit.edu	37	4	140640738	140640738	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:140640738G>A	ENST00000509479.2	-	5	4012	c.3156C>T	c.(3154-3156)agC>agT	p.S1052S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1048					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGACTCCCTGGCTCAGGCCAG	0.647000													5	31					0	0	0.000602	0	0
HCN1	348980	broad.mit.edu	37	5	45303729	45303729	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:45303729C>G	ENST00000303230.4	-	6	1647	c.1590G>C	c.(1588-1590)atG>atC	p.M530I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	530						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGTCAGCTTCATTTCTTTAC	0.353000													16	66					0	0	0.006122	0	0
LONRF1	91694	broad.mit.edu	37	8	12598387	12598387	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:12598387T>C	ENST00000398246.3	-	3	1028	c.959A>G	c.(958-960)cAa>cGa	p.Q320R	LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	320					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GATTACCTTTTGTACTTGCAG	0.373000													39	64					0	0	0.004878	0	0
OR56B1	387748	broad.mit.edu	37	11	5757697	5757697	+	Translation_Start_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5757697T>A	ENST00000317121.3	+	0	17				TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GGTTCCAACCTGTGATAACTG	0.313000											OREG0003731	type=REGULATORY REGION|Gene=OR56B1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	47					0	0	0.008291	0	0
NRN1	51299	broad.mit.edu	37	6	5999396	5999396	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:5999396G>T	ENST00000244766.2	-	3	459	c.242C>A	c.(241-243)aCg>aAg	p.T81K	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	81						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTGGCAATCCGTAAGGGCTGT	0.517000													12	57					7.93312e-07	9.57706e-07	0.002450	1	0
FAM19A5	25817	broad.mit.edu	37	22	48972368	48972368	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:48972368C>A	ENST00000358295.5	+	1	251	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	FAM19A5_ENST00000402357.1_Intron|FAM19A5_ENST00000473898.1_3'UTR	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	0						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GATCCACGCGCAGTTCCTCAA	0.711000													3	6					0.004672	0.00514163	0.004672	1	0
ASZ1	136991	broad.mit.edu	37	7	117003704	117003704	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:117003704T>C	ENST00000284629.2	-	13	1436	c.1374A>G	c.(1372-1374)atA>atG	p.I458M		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	458					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGAATCCGCATATGGTAATAG	0.318000													14	40					0	0	0.003163	0	0
ASCC3	10973	broad.mit.edu	37	6	101037825	101037825	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101037825T>A	ENST00000369162.2	-	35	5758	c.5415_splice	c.e35+1	p.E1805_splice		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAGTCATACCTCTCCAATTTC	0.343000													9	29					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	8969277	8969277	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:8969277G>T	ENST00000397910.4	-	79	43270	c.43068_splice	c.e79+1	p.A14356_splice	MUC16_ENST00000380951.5_Splice_Site_p.A997_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14452	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTTCTCACCGCATCCTCAAT	0.468000													21	61					3.83957e-06	4.55725e-06	0.002780	1	0
CASKIN1	57524	broad.mit.edu	37	16	2235118	2235118	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:2235118G>T	ENST00000343516.6	-	12	1325	c.1233C>A	c.(1231-1233)ggC>ggA	p.G411G		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	411	CASK-binding (By similarity).				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CTACCTTGACGCCTTCAGAGC	0.687000													8	20					0.000157383	0.000180069	0.003080	1	0
RPL39P5	553117	broad.mit.edu	37	3	134070860	134070860	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:134070860G>A	ENST00000273411.2	-	0	282																											AATCCACTGGGGAATGGGACG	0.428000													20	53					0	0	0.007413	0	0
MERTK	10461	broad.mit.edu	37	2	112751909	112751909	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:112751909A>G	ENST00000295408.4	+	9	1635	c.1378A>G	c.(1378-1380)Agg>Ggg	p.R460G	MERTK_ENST00000409780.1_Missense_Mutation_p.R284G|MERTK_ENST00000421804.2_Missense_Mutation_p.R460G			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	460	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCACAGTGAGGATTGCAGC	0.527000													55	125					0	0	0.014410	0	0
TRIM51	84767	broad.mit.edu	37	11	55653180	55653180	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55653180A>T	ENST00000449290.2	+	2	368	c.276A>T	c.(274-276)atA>atT	p.I92I		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	92						intracellular	zinc ion binding										AGGAGCAAATATGTGGGATGC	0.493000													6	24					0	0	0.001168	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424727	89424727	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:89424727G>A	ENST00000359595.3	-	3	568	c.354C>T	c.(352-354)cgC>cgT	p.R118R	HAPLN3_ENST00000562889.1_Silent_p.R180R	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	118	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCAGGTGCACGCGGCCTTGGT	0.627000													12	135					0	0	0.013537	0	0
SPATA21	374955	broad.mit.edu	37	1	16736455	16736455	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:16736455C>G	ENST00000335496.1	-	6	710	c.228G>C	c.(226-228)caG>caC	p.Q76H	SPATA21_ENST00000540400.1_Missense_Mutation_p.Q53H|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	76							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCCCGAGGCTCTGTGTCCCTG	0.657000													24	63					0	0	0.002780	0	0
KCNA3	3738	broad.mit.edu	37	1	111216792	111216792	+	Missense_Mutation	SNP	G	G	A	rs145190352	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111216792G>A	ENST00000369769.2	-	1	863	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAAGTCGCGGCGGGGCAAG	0.687000													31	71					0	0	0.010818	0	0
NRAP	4892	broad.mit.edu	37	10	115381802	115381802	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:115381802C>A	ENST00000369358.4	-	24	2863	c.2619G>T	c.(2617-2619)gaG>gaT	p.E873D	NRAP_ENST00000360478.3_Missense_Mutation_p.E830D|NRAP_ENST00000369360.3_Missense_Mutation_p.E838D|NRAP_ENST00000359988.3_Missense_Mutation_p.E865D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	865						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTGGTGTCCTCGAATCCCT	0.532000													35	66					4.62619e-21	6.99436e-21	0.004289	1	0
DACH1	1602	broad.mit.edu	37	13	72063214	72063214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:72063214C>T	ENST00000305425.4	-	7	2065	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	DACH1_ENST00000354591.4_Missense_Mutation_p.G346E|DACH1_ENST00000313174.7_Missense_Mutation_p.G400E|DACH1_ENST00000359684.2_Missense_Mutation_p.G600E	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	598					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTGGTTGTCCATGCCCAGT	0.448000													55	104					0	0	0.014410	0	0
FILIP1	27145	broad.mit.edu	37	6	76023776	76023776	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:76023776C>T	ENST00000393004.2	-	5	1993	c.1772G>A	c.(1771-1773)tGc>tAc	p.C591Y	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.C492Y|FILIP1_ENST00000237172.7_Missense_Mutation_p.C591Y			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	591										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCAACACTGCAGCTTAATTC	0.388000													37	119					0	0	0.003271	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433907	69433907	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:69433907T>A	ENST00000317746.2	-	1	338	c.296A>T	c.(295-297)tAt>tTt	p.Y99F		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	99					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGAAATACTATATGTCCATCT	0.274000													27	26					0	0	0.003954	0	0
CHAD	1101	broad.mit.edu	37	17	48545852	48545852	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:48545852T>A	ENST00000508540.1	-	1	475	c.323A>T	c.(322-324)cAt>cTt	p.H108L	CHAD_ENST00000258969.4_Missense_Mutation_p.H108L|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	108					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GATGTCGTTATGGGACAGGTA	0.627000													23	76					0	0	0.003330	0	0
MADD	8567	broad.mit.edu	37	11	47311587	47311587	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47311587G>T	ENST00000342922.4	+	17	3283	c.2926G>T	c.(2926-2928)Gac>Tac	p.D976Y	MADD_ENST00000407859.3_Missense_Mutation_p.D953Y|MADD_ENST00000402192.2_Missense_Mutation_p.D976Y|MADD_ENST00000395336.3_Missense_Mutation_p.D996Y|MADD_ENST00000402799.1_Missense_Mutation_p.D933Y|MADD_ENST00000406482.1_Missense_Mutation_p.D933Y|MADD_ENST00000349238.3_Missense_Mutation_p.D996Y|MADD_ENST00000395344.3_Missense_Mutation_p.D933Y|MADD_ENST00000311027.5_Missense_Mutation_p.D996Y	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	996					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGCCCGGCAGGACATCATCCC	0.587000													18	49					5.3912e-06	6.36322e-06	0.006122	1	0
PTPRD	5789	broad.mit.edu	37	9	8340364	8340364	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:8340364G>T	ENST00000381196.4	-	39	5775	c.5232C>A	c.(5230-5232)acC>acA	p.T1744T	PTPRD_ENST00000540109.1_Silent_p.T1744T|PTPRD_ENST00000360074.4_Silent_p.T1731T|PTPRD_ENST00000537002.1_Silent_p.T1334T|PTPRD_ENST00000358503.5_Silent_p.T1722T|PTPRD_ENST00000355233.5_Silent_p.T1338T|PTPRD_ENST00000486161.1_Silent_p.T1337T|PTPRD_ENST00000356435.5_Silent_p.T1744T|PTPRD_ENST00000397606.3_Silent_p.T1337T|PTPRD_ENST00000397611.3_Silent_p.T1334T|PTPRD_ENST00000397617.3_Silent_p.T1337T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1744	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGCAGCTTGGTGAGCATCA	0.483000										TSP Lung(15;0.13)			18	26					9.16793e-09	1.17136e-08	0.004990	1	0
ELP5	23587	broad.mit.edu	37	17	7160292	7160292	+	Missense_Mutation	SNP	G	G	T	rs147755585		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7160292G>T	ENST00000574993.1	+	5	791	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	ELP5_ENST00000396628.2_Missense_Mutation_p.G192C|ELP5_ENST00000354429.2_Missense_Mutation_p.G192C|ELP5_ENST00000356683.2_Missense_Mutation_p.G192C|ELP5_ENST00000396627.2_Missense_Mutation_p.G192C|RP1-4G17.5_ENST00000577138.1_Intron					elongator acetyltransferase complex subunit 5																		GACCCTGGGCGGTACCATGGG	0.617000													15	21					6.31663e-08	7.91136e-08	0.003163	1	0
MDH1B	130752	broad.mit.edu	37	2	207620081	207620081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:207620081C>T	ENST00000374412.3	-	5	837	c.562G>A	c.(562-564)Gca>Aca	p.A188T	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.A188T|MDH1B_ENST00000449792.1_Missense_Mutation_p.A90T	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	188					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACGGGAGATGCCAGGTCTTGG	0.532000													17	31					0	0	0.007413	0	0
MLLT1	4298	broad.mit.edu	37	19	6230694	6230694	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:6230694C>T	ENST00000252674.7	-	4	470	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	103	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGAACAGGTCGTAGGTGAAG	0.582000			T	MLL	AL								46	99					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179556770	179556770	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179556770T>C	ENST00000589042.1	-	121	31959	c.31735A>G	c.(31735-31737)Aag>Gag	p.K10579E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K10262E|TTN_ENST00000342992.6_Missense_Mutation_p.K9335E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10262	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCTTCTTAGGCACAGGA	0.458000													18	43					0	0	0.012319	0	0
ACY3	91703	broad.mit.edu	37	11	67414349	67414349	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67414349C>G	ENST00000255082.3	-	3	336	c.166G>C	c.(166-168)Gca>Cca	p.A56P	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	56					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GATGTGGCTGCCGGGTTGGCC	0.657000													4	19					0	0	0.000602	0	0
SRRM4	84530	broad.mit.edu	37	12	119592088	119592088	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119592088C>A	ENST00000267260.4	+	12	1820	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	478	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCGCAGCAGCGGGAGCGCGA	0.662000													3	17					0.004672	0.00514163	0.004672	1	0
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	309					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373000													22	65					0	0	0.012319	0	0
WLS	79971	broad.mit.edu	37	1	68613868	68613868	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:68613868G>A	ENST00000262348.4	-	8	1338	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.T271M|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.T360M|WLS_ENST00000540432.1_Missense_Mutation_p.T362M	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	362					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGGGATTCGTGAGTTGTAC	0.443000													21	75					0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82764673	82764673	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82764673C>A	ENST00000423517.2	-	3	2530	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N	PCLO_ENST00000333891.8_Missense_Mutation_p.K731N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	677	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGGGCTGGCTTGGACAAAG	0.537000													10	43					0.000442599	0.000500981	0.006214	1	0
NMB	4828	broad.mit.edu	37	15	85200448	85200448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85200448C>G	ENST00000394588.3	-	2	699	c.289G>C	c.(289-291)Gct>Cct	p.A97P	NMB_ENST00000360476.3_Missense_Mutation_p.A97P	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	97					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		ACGCCCAGAGCCTTCTTTAGC	0.652000													13	19					0	0	0.002450	0	0
OLAH	55301	broad.mit.edu	37	10	15113820	15113820	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:15113820T>A	ENST00000378217.3	+	8	945	c.758T>A	c.(757-759)cTt>cAt	p.L253H	OLAH_ENST00000378228.3_Missense_Mutation_p.L200H|OLAH_ENST00000485251.1_Intron	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	200					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AAGGCTGTTCTTTCCTGTGAC	0.343000													21	67					0	0	0.014323	0	0
HUS1	3364	broad.mit.edu	37	7	48016391	48016391	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48016391G>A	ENST00000258774.5	-	4	424	c.401C>T	c.(400-402)cCc>cTc	p.P134L	HUS1_ENST00000432325.1_Missense_Mutation_p.P113L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	134					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				CACCTTTATGGGGATGTCATG	0.413000								Direct reversal of damage;Other conserved DNA damage response genes					73	101					0	0	0.014410	0	0
GATA6	2627	broad.mit.edu	37	18	19761485	19761485	+	Silent	SNP	C	C	T	rs143026087	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:19761485C>T	ENST00000269216.3	+	4	1651	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	GATA6_ENST00000581694.1_Silent_p.N458N	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	458					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGCGCAGAAACGCCGAGGGTG	0.473000													4	70					0	0	0.009096	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076277	1076277	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:1076277C>A	ENST00000264930.5	-	14	1866	c.1823G>T	c.(1822-1824)cGt>cTt	p.R608L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	608					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAGCGTGGACGCCAGTTGGG	0.642000													8	14					0.000673444	0.00075688	0.008291	1	0
FCRL4	83417	broad.mit.edu	37	1	157555966	157555966	+	Missense_Mutation	SNP	G	G	T	rs150996859		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:157555966G>T	ENST00000271532.1	-	6	1262	c.1127C>A	c.(1126-1128)aCt>aAt	p.T376N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	376						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTCTCACAGTGACATTCAG	0.488000													40	85					3.09479e-21	4.69019e-21	0.006999	1	0
CUX2	23316	broad.mit.edu	37	12	111655724	111655724	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111655724A>T	ENST00000261726.6	+	3	359	c.205A>T	c.(205-207)Aaa>Taa	p.K69*	CUX2_ENST00000551604.2_3'UTR	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTGTATTAAAAAGCTTCCA	0.567000													28	84					0	0	0.006320	0	0
TTC24	164118	broad.mit.edu	37	1	156554971	156554971	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:156554971A>G	ENST00000368236.3	+	8	1440	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.K468K	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	468							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAAGAAAAAAGAGGAGAGGT	0.562000													18	37					0	0	0.010504	0	0
ASCC3	10973	broad.mit.edu	37	6	101296082	101296082	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101296082C>G	ENST00000369162.2	-	4	1087	c.743G>C	c.(742-744)tGc>tCc	p.C248S	ASCC3_ENST00000522650.1_Missense_Mutation_p.C248S	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAAGTACAGCAAAGATCTTC	0.318000													9	50					0	0	0.004482	0	0
OR10G2	26534	broad.mit.edu	37	14	22102184	22102184	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:22102184G>T	ENST00000542433.1	-	1	912	c.815C>A	c.(814-816)cCc>cAc	p.P272H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P272N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCCAGGGGGTCTTTGGA	0.542000													22	62					2.37509e-13	3.30742e-13	0.010504	1	0
SNX19	399979	broad.mit.edu	37	11	130785267	130785267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:130785267C>T	ENST00000265909.4	-	1	1137	c.568G>A	c.(568-570)Gag>Aag	p.E190K	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E190K|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	190	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CAGTAAGCCTCCCAGAGGTGG	0.572000													7	38					0	0	0.001984	0	0
OTOGL	283310	broad.mit.edu	37	12	80699366	80699366	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:80699366C>G	ENST00000458043.2	+	28	3203	c.3197C>G	c.(3196-3198)tCa>tGa	p.S1066*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.S1066*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACAAGCTATCAGGATTGTGT	0.328000													8	20					0	0	0.003080	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799217	57799217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57799217C>A	ENST00000302622.3	+	1	816	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TATGTATGTCCAGACCAAGGT	0.502000													52	147					1.11015e-26	1.72358e-26	0.014410	1	0
RP1	6101	broad.mit.edu	37	8	55533742	55533742	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:55533742G>T	ENST00000220676.1	+	2	364	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	72	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTGTCCAGGAAGGTGCCCC	0.592000													25	95					9.86323e-18	1.4498e-17	0.003954	1	0
CCDC180	100499483	broad.mit.edu	37	9	100092789	100092789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:100092789C>T	ENST00000375202.2	+	32	3498	c.2146C>T	c.(2146-2148)Cag>Tag	p.Q716*	CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q716*|CCDC180_ENST00000357054.1_Nonsense_Mutation_p.Q855*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.Q713*|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		GGTGCTGGGGCAGCAGAAAAA	0.453000													10	25					0	0	0.008291	0	0
DCHS2	54798	broad.mit.edu	37	4	155256021	155256021	+	Splice_Site	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:155256021C>G	ENST00000357232.3	-	8	1214	c.1216_splice	c.e8+1	p.L405_splice	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Splice_Site_p.L904_splice	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	405	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTACTTACTCAAGGGCTCTC	0.373000													23	63					0	0	0.003330	0	0
BACH2	60468	broad.mit.edu	37	6	90718382	90718382	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90718382T>C	ENST00000257749.4	-	6	889	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	BACH2_ENST00000343122.3_Missense_Mutation_p.Y61C|BACH2_ENST00000537989.1_Missense_Mutation_p.Y61C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	61	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGCCAAAAATATTCACTGCA	0.478000													34	59					0	0	0.012213	0	0
SPG11	80208	broad.mit.edu	37	15	44921518	44921518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:44921518G>A	ENST00000261866.7	-	9	1820	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q602*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q602*|SPG11_ENST00000559193.1_Nonsense_Mutation_p.Q602*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q602*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	602					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTTTGCTTTGGGGTTCAGAA	0.358000													16	44					0	0	0.004007	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513300	70513300	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:70513300C>T	ENST00000503640.1	-	1	118	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2A1_ENST00000512704.1_Silent_p.G21G|UGT2A1_ENST00000286604.4_Silent_p.G21G|UGT2A1_ENST00000514019.1_Silent_p.G21G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	21					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAAAACATTCCCACCAAGAG	0.388000													11	25					0	0	0.013537	0	0
NAV3	89795	broad.mit.edu	37	12	78444708	78444708	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:78444708G>C	ENST00000397909.2	+	11	2470	c.2297G>C	c.(2296-2298)aGt>aCt	p.S766T	NAV3_ENST00000228327.6_Missense_Mutation_p.S766T|NAV3_ENST00000536525.2_Missense_Mutation_p.S766T|NAV3_ENST00000266692.7_Missense_Mutation_p.S766T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	766						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S766I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATCCTCGCAGTGGTACCAGT	0.587000										HNSCC(70;0.22)			7	32					0	0	0.003080	0	0
STAT5B	6777	broad.mit.edu	37	17	40368065	40368065	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40368065G>A	ENST00000293328.3	-	12	1608	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	480					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGAGAACAGTGGCCGTCGCAT	0.522000													12	18					0	0	0.002450	0	0
MAFB	9935	broad.mit.edu	37	20	39316726	39316726	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:39316726G>C	ENST00000373313.2	-	1	1154	c.765C>G	c.(763-765)tgC>tgG	p.C255W	MAFB_ENST00000396967.1_Missense_Mutation_p.C255W	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	255					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GTTTATACCTGCAAGACTGGG	0.622000			T	IGH@	MM								31	31					0	0	0.008361	0	0
FGD3	89846	broad.mit.edu	37	9	95738930	95738930	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:95738930G>T	ENST00000375482.3	+	3	888	c.392G>T	c.(391-393)gGt>gTt	p.G131V	FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Missense_Mutation_p.G131V|FGD3_ENST00000416701.2_Missense_Mutation_p.G131V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	131					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGCGACGTGGGTGAGGAACCT	0.682000													23	30					9.04412e-07	1.08769e-06	0.004656	1	0
ZIC1	7545	broad.mit.edu	37	3	147131245	147131245	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:147131245G>T	ENST00000282928.4	+	3	1980	c.1251G>T	c.(1249-1251)ccG>ccT	p.P417P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	417	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGACAACCCGACCACAAGCT	0.592000													17	98					2.5808e-16	3.72456e-16	0.006122	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482375	142482375	+	RNA	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:142482375C>A	ENST00000603901.1	+	0	755					NR_001296.3																						AGCCCCTGGTCACTCTGCAGT	0.498000													18	72					3.32936e-07	4.09718e-07	0.006122	1	0
TRAV19	28664	broad.mit.edu	37	14	22475783	22475783	+	RNA	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:22475783G>C	ENST00000390447.3	+	0	33																											AACTTTGCTAGTACCTCTTGA	0.448000													3	8					0	0	0.004672	0	0
C1orf94	84970	broad.mit.edu	37	1	34666433	34666433	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:34666433G>T	ENST00000488417.1	+	3	1190	c.1070G>T	c.(1069-1071)tGg>tTg	p.W357L	C1orf94_ENST00000373374.3_Missense_Mutation_p.W167L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	167							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTCAGCCAGTGGCCCCAGAGC	0.587000													38	65					3.09479e-21	4.69019e-21	0.006999	1	0
RAD54L	8438	broad.mit.edu	37	1	46726971	46726971	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:46726971C>A	ENST00000371975.4	+	8	1479	c.805C>A	c.(805-807)Ccc>Acc	p.P269T	RAD54L_ENST00000442598.1_Missense_Mutation_p.P269T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	269	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTGTCTTCTCCCATCCTCAT	0.423000								Direct reversal of damage;Homologous recombination					20	44					0.00152264	0.0016933	0.010504	1	0
PRELP	5549	broad.mit.edu	37	1	203453274	203453274	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:203453274A>G	ENST00000343110.2	+	2	1089	c.962A>G	c.(961-963)aAt>aGt	p.N321S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	321					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCAACAACAATAGCATCGAG	0.572000													15	36					0	0	0.003163	0	0
AK5	26289	broad.mit.edu	37	1	77763626	77763626	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:77763626G>A	ENST00000344720.5	+	5	1641	c.615G>A	c.(613-615)gaG>gaA	p.E205E	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Silent_p.E231E	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	231					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TATCTTTTGAGGACCAAGTAA	0.333000													7	28					0	0	0.001984	0	0
RNF150	57484	broad.mit.edu	37	4	141868813	141868813	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:141868813G>T	ENST00000306799.3	-	4	1412	c.759C>A	c.(757-759)ccC>ccA	p.P253P	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Silent_p.P154P|RNF150_ENST00000515673.1_Silent_p.P295P|RNF150_ENST00000420921.2_Silent_p.P154P|RNF150_ENST00000507500.1_Silent_p.P295P	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	295						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTCACCGGCAGGGCAGGATCC	0.562000													18	69					3.8784e-16	5.55934e-16	0.012319	1	0
NEURL2	140825	broad.mit.edu	37	20	44519214	44519214	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44519214T>C	ENST00000372518.4	-	1	712	c.417A>G	c.(415-417)ccA>ccG	p.P139P		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGAGGAGGGTTGGAGGTCGGC	0.701000													28	20					0	0	0.007291	0	0
ADA	100	broad.mit.edu	37	20	43251265	43251265	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:43251265C>A	ENST00000372874.4	-	9	943	c.809G>T	c.(808-810)gGt>gTt	p.G270V	PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Missense_Mutation_p.G246V	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	270					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTTCCAGGCACCAGTGAGGTA	0.592000									Adenosine Deaminase Deficiency				20	14					4.35082e-09	5.62682e-09	0.010504	1	0
ZNF350	59348	broad.mit.edu	37	19	52468703	52468703	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468703C>T	ENST00000243644.4	-	5	1230	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	335					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CTCTGATGTGCTATGAGACAC	0.393000													19	68					0	0	0.006122	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107070746	107070746	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:107070746C>T	ENST00000539449.1	-	2	849	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.G125S			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	125						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATCACCACGCCAGAGACATCC	0.478000													9	29					0	0	0.006214	0	0
HGF	3082	broad.mit.edu	37	7	81346600	81346600	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:81346600C>G	ENST00000222390.5	-	11	1579	c.1353G>C	c.(1351-1353)tgG>tgC	p.W451C	HGF_ENST00000457544.2_Missense_Mutation_p.W446C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	451	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCGTGTAGCACCAGGGTCCAT	0.423000													15	48					0	0	0.002450	0	0
NETO1	81832	broad.mit.edu	37	18	70526311	70526311	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:70526311T>A	ENST00000327305.6	-	4	878		c.e4-2		NETO1_ENST00000580049.1_Splice_Site|NETO1_ENST00000397929.1_Splice_Site|NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTGGAGCGGCTGTAAAGAAGA	0.368000													9	48					0	0	0.006214	0	0
PHF20L1	51105	broad.mit.edu	37	8	133856460	133856460	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133856460A>G	ENST00000395386.2	+	20	3107	c.2808A>G	c.(2806-2808)ccA>ccG	p.P936P	PHF20L1_ENST00000395390.2_Silent_p.P911P|PHF20L1_ENST00000220847.7_Silent_p.P323P|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	936							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CCGAAGACCCAGGAGACTCAC	0.418000													25	47					0	0	0.003330	0	0
AGAP6	414189	broad.mit.edu	37	10	51768720	51768720	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:51768720G>A	ENST00000374056.4	+	7	1164	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	AGAP6_ENST00000412531.3_Missense_Mutation_p.G279S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	279					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G279C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CATCGGGAGCGGTAGAGCCAT	0.512000													71	339					0	0	0.014410	0	0
C8B	732	broad.mit.edu	37	1	57420405	57420405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:57420405G>A	ENST00000543257.1	-	5	897	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	C8B_ENST00000535057.1_Nonsense_Mutation_p.Q101*|C8B_ENST00000371237.4_Nonsense_Mutation_p.Q163*	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	163	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATTTCATGCTGACATTTTTTA	0.443000													25	72					0	0	0.002780	0	0
TARSL2	123283	broad.mit.edu	37	15	102201966	102201966	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:102201966C>G	ENST00000335968.3	-	16	2237	c.2021G>C	c.(2020-2022)gGa>gCa	p.G674A	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	674					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACTGATCCCAAAATGGC	0.308000													7	41					0	0	0.001984	0	0
PTK2B	2185	broad.mit.edu	37	8	27310644	27310644	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000346049.5_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542000													33	60					0	0	0.004878	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390790	42390790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:42390790G>T	ENST00000426726.3	+	4	651	c.377G>T	c.(376-378)cGg>cTg	p.R126L	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R121L|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R126L	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	126	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAGGGCCGGGCATGGATC	0.607000													13	48					1.61879e-10	2.146e-10	0.013537	1	0
COX7B2	170712	broad.mit.edu	37	4	46737052	46737052	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46737052G>A	ENST00000396533.1	-	4	408	c.158C>T	c.(157-159)aCa>aTa	p.T53I	COX7B2_ENST00000302930.5_Missense_Mutation_p.T53I|COX7B2_ENST00000355591.3_Missense_Mutation_p.T53I|COX7B2_ENST00000543208.1_Missense_Mutation_p.T52I			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	53						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						AAACACCCATGTAGCAACACA	0.433000													22	61					0	0	0.014323	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525169	42525169	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:42525169T>C	ENST00000360608.5	-	3	485	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	NDUFA6-AS1_ENST00000416037.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Intron|CYP2D6_ENST00000389970.3_Missense_Mutation_p.Y124C	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	124							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.Y124C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGCGGGCCCATAGCGCGCCAG	0.682000													19	33					0	0	0.012319	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237601	33237601	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:33237601C>G	ENST00000401073.2	+	6	2891	c.2821C>G	c.(2821-2823)Ctg>Gtg	p.L941V	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.L882V|KIAA1522_ENST00000373481.3_Missense_Mutation_p.L893V	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	882	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGCCTGGCCGCCAG	0.682000													4	36					0	0	0.009096	0	0
AKAP11	11215	broad.mit.edu	37	13	42874719	42874719	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:42874719A>G	ENST00000025301.2	+	8	2012	c.1837A>G	c.(1837-1839)Agt>Ggt	p.S613G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	613					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACGTGCCATTAGTGGCCTGGC	0.388000													11	30					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237791164	237791164	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237791164T>G	ENST00000366574.2	+	41	6541	c.6224T>G	c.(6223-6225)aTt>aGt	p.I2075S	RYR2_ENST00000542537.1_Missense_Mutation_p.I2059S|RYR2_ENST00000360064.6_Missense_Mutation_p.I2073S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2075	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCTGTCATTGAAGACCCC	0.493000													5	25					0	0	0.000602	0	0
GANAB	23193	broad.mit.edu	37	11	62393907	62393907	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62393907C>T	ENST00000346178.4	-	23	2605	c.2590G>A	c.(2590-2592)Gga>Aga	p.G864R	GANAB_ENST00000540933.1_Missense_Mutation_p.G745R|GANAB_ENST00000356638.3_Missense_Mutation_p.G842R|GANAB_ENST00000534779.1_Missense_Mutation_p.G750R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	842					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AAGAGCTCTCCTTGAGCTGTA	0.557000													20	50					0	0	0.008871	0	0
HFM1	164045	broad.mit.edu	37	1	91846506	91846506	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:91846506G>T	ENST00000370425.3	-	7	934	c.836C>A	c.(835-837)cCa>cAa	p.P279Q	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	279							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGAAATATGGAAATTCTTT	0.249000													7	41					2.17888e-05	2.54336e-05	0.006214	1	0
KIAA0922	23240	broad.mit.edu	37	4	154556600	154556600	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:154556600C>T	ENST00000409663.3	+	34	4483	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	KIAA0922_ENST00000409959.3_Silent_p.A1478A|KIAA0922_ENST00000440693.1_Silent_p.A1394A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1477						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGAACTATGCCAATGGCTTCC	0.438000													21	67					0	0	0.012319	0	0
PM20D1	148811	broad.mit.edu	37	1	205797807	205797807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205797807C>G	ENST00000367136.4	-	13	1494	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	484						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGAATCAACTCAAAGATGAAT	0.512000													23	41					0	0	0.012319	0	0
EWSR1	2130	broad.mit.edu	37	22	29684763	29684763	+	Missense_Mutation	SNP	G	G	T	rs71329463		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:29684763G>T	ENST00000397938.2	+	8	1281	c.962G>T	c.(961-963)cGc>cTc	p.R321L	EWSR1_ENST00000333395.6_Missense_Mutation_p.R321L|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000332035.6_Missense_Mutation_p.R265L|EWSR1_ENST00000406548.1_Missense_Mutation_p.R321L|EWSR1_ENST00000414183.2_Missense_Mutation_p.R327L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	321	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGAGGACGCGGTGGAATG	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								4	19					0.00909568	0.00994106	0.009096	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26046019	26046019	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26046019G>T	ENST00000540144.1	+	1	381	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	127					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						ATATCCAGCTGGCACGTCGCA	0.502000													22	47					1.22574e-08	1.56294e-08	0.014323	1	0
DTX4	23220	broad.mit.edu	37	11	58972335	58972335	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:58972335G>A	ENST00000227451.3	+	9	1917	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	DTX4_ENST00000532982.1_Missense_Mutation_p.A499T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	605					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCTGAACTGGCTGCCCAGGG	0.552000													4	13					0	0	0.009096	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209910	140209910	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:140209910T>A	ENST00000529310.1	+	1	2348	c.2234T>A	c.(2233-2235)gTg>gAg	p.V745E	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCGCAGTGGGGAGCTGG	0.677000													17	32					0	0	0.004990	0	0
TMCC1	23023	broad.mit.edu	37	3	129389575	129389575	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129389575C>A	ENST00000393238.3	-	4	1449	c.1109G>T	c.(1108-1110)aGa>aTa	p.R370I	TMCC1_ENST00000432054.2_Missense_Mutation_p.R46I|TMCC1_ENST00000329333.5_Missense_Mutation_p.R191I|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCAATCTCTCTGGGCTTTGA	0.527000													17	51					4.7546e-09	6.12408e-09	0.004007	1	0
ASTN1	460	broad.mit.edu	37	1	176903411	176903411	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:176903411C>A	ENST00000367654.2	-	16	2585	c.2572G>T	c.(2572-2574)Gac>Tac	p.D858Y	ASTN1_ENST00000367657.3_Missense_Mutation_p.D850Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D850Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.D850Y			O14525	ASTN1_HUMAN	astrotactin 1	858					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGAACTGGTCCAACAGCGCC	0.542000													26	52					7.33532e-06	8.62579e-06	0.003954	1	0
NOD2	64127	broad.mit.edu	37	16	50745419	50745419	+	Nonsense_Mutation	SNP	C	C	T	rs147417132		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:50745419C>T	ENST00000300589.2	+	4	1702	c.1597C>T	c.(1597-1599)Caa>Taa	p.Q533*		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	533	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTCAGCTTCCCAAGGTCTGGG	0.617000													30	39					0	0	0.009535	0	0
TPX2	22974	broad.mit.edu	37	20	30363782	30363782	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:30363782G>A	ENST00000340513.4	+	8	1249	c.721G>A	c.(721-723)Gct>Act	p.A241T	TPX2_ENST00000300403.6_Missense_Mutation_p.A241T			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	241					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTTGCTCTGGCTGGAATAGG	0.388000													33	42					0	0	0.006230	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124180	142124180	+	RNA	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:142124180C>A	ENST00000390376.2	-	0	297																											CGGGAGGGAGCAGCCGACACC	0.532000													107	307					8.08851e-39	1.3003e-38	0.014410	1	0
PIK3R2	5296	broad.mit.edu	37	19	18278076	18278076	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:18278076G>T	ENST00000593731.1	+	13	2256	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	PIK3R2_ENST00000222254.7_Missense_Mutation_p.D566Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	566					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCTCAAGCCGGACCTCATGCA	0.622000													16	42					6.94344e-10	9.0909e-10	0.006122	1	0
C8orf47	203111	broad.mit.edu	37	8	99101705	99101705	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:99101705C>A	ENST00000318528.3	+	2	819	c.460C>A	c.(460-462)Cca>Aca	p.P154T	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	154										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCCTTTAGGACCAGAAGCCAA	0.527000													7	46					0.000157383	0.000180069	0.003080	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463994	25463994	+	RNA	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:25463994G>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GTGTGGGCTTGGTGTCGGTGC	0.567000													8	26					1.06961e-07	1.33177e-07	0.003080	1	0
CA10	56934	broad.mit.edu	37	17	50212253	50212253	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:50212253C>G	ENST00000340813.6	-	2	494	c.65G>C	c.(64-66)gGg>gCg	p.G22A	CA10_ENST00000451037.2_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000442502.2_Intron|CA10_ENST00000285273.4_Intron			Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ctccctcacccccaccataca	0.557000													20	74					0	0	0.014323	0	0
MBD1	4152	broad.mit.edu	37	18	47803478	47803478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:47803478C>G	ENST00000591416.1	-	3	638	c.207G>C	c.(205-207)ttG>ttC	p.L69F	MBD1_ENST00000457839.2_Missense_Mutation_p.L69F|MBD1_ENST00000436910.1_Missense_Mutation_p.L69F|MBD1_ENST00000269471.5_Missense_Mutation_p.L69F|MBD1_ENST00000398488.1_Missense_Mutation_p.L69F|MBD1_ENST00000588937.1_Missense_Mutation_p.L69F|MBD1_ENST00000398495.2_Missense_Mutation_p.L69F|MBD1_ENST00000382948.5_Missense_Mutation_p.L69F|MBD1_ENST00000353909.3_Missense_Mutation_p.L69F|MBD1_ENST00000349085.2_Missense_Mutation_p.L69F|MBD1_ENST00000347968.3_Missense_Mutation_p.L69F|MBD1_ENST00000424334.2_Missense_Mutation_p.L95F|MBD1_ENST00000585672.1_Missense_Mutation_p.L69F|MBD1_ENST00000585595.1_Missense_Mutation_p.L69F|MBD1_ENST00000339998.6_Missense_Mutation_p.L69F|MBD1_ENST00000591535.1_Missense_Mutation_p.L69F|MBD1_ENST00000398493.1_Missense_Mutation_p.L69F|MBD1_ENST00000590208.1_Missense_Mutation_p.L69F|MBD1_ENST00000587605.1_Missense_Mutation_p.L69F|MBD1_ENST00000269468.5_Missense_Mutation_p.L69F			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	69	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGATAGCACAAGATGCCTT	0.537000													10	41					0	0	0.008291	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696552	150696552	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:150696552C>T	ENST00000335244.4	-	10	1407	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	SLC36A2_ENST00000450886.1_Silent_p.L150L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	426					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGACCTCCAGGAGCGGTG	0.647000													9	17					0	0	0.006214	0	0
AIM1L	55057	broad.mit.edu	37	1	26648778	26648778	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:26648778G>A	ENST00000527815.1	-	18	2201	c.2152C>T	c.(2152-2154)Cct>Tct	p.P718S	AIM1L_ENST00000308182.5_Missense_Mutation_p.P547S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	547							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTGGGCTAGGGGGTCCAATC	0.617000													24	65					0	0	0.003330	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018993	1018993	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1018993A>T	ENST00000398484.2	+	8	1953	c.1373A>T	c.(1372-1374)cAc>cTc	p.H458L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.H458L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H458L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H458L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	458					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCCCCAGCACTTACTGGGC	0.622000													6	19					0	0	0.004482	0	0
HSPB3	8988	broad.mit.edu	37	5	53751686	53751686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:53751686C>T	ENST00000302005.1	+	1	242	c.67C>T	c.(67-69)Cga>Tga	p.R23*		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	23					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GTTTGAAGCTCGAGGTCTAGA	0.502000													31	49					0	0	0.008361	0	0
ANK1	286	broad.mit.edu	37	8	41522471	41522471	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:41522471T>A	ENST00000457297.1	-	1	333	c.71A>T	c.(70-72)aAc>aTc	p.N24I	ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000522231.1_Missense_Mutation_p.N24I|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.N24I|ANK1_ENST00000314214.8_Missense_Mutation_p.N24I	NM_020480.4	NP_065213.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGCATCACGTTCTGACAGCT	0.602000													16	47					0	0	0.004007	0	0
KIF26A	26153	broad.mit.edu	37	14	104640109	104640109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:104640109C>T	ENST00000315264.7	+	9	1895	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	KIF26A_ENST00000423312.2_Missense_Mutation_p.A645V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	645	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGCAGGGCCGGGGAGGCT	0.667000													12	30					0	0	0.013537	0	0
CLC	1178	broad.mit.edu	37	19	40222130	40222130	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40222130G>T	ENST00000221804.4	-	4	394	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	107	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TAAGAGGATTGGCCATTGACC	0.413000													40	154					4.07013e-28	6.3502e-28	0.008740	1	0
HEPHL1	341208	broad.mit.edu	37	11	93797618	93797618	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:93797618C>A	ENST00000315765.9	+	4	758	c.750C>A	c.(748-750)acC>acA	p.T250T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	250	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTTCTGCACCAACCCTGATT	0.408000													12	27					0.00185496	0.00205926	0.001855	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607177	84607177	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:84607177C>T	ENST00000344803.2	+	4	1839	c.1792C>T	c.(1792-1794)Ctg>Ttg	p.L598L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCTCTATTCCTGATTAGGAT	0.502000													28	50					0	0	0.007291	0	0
DNAH7	56171	broad.mit.edu	37	2	196749473	196749473	+	Silent	SNP	A	A	G	rs149685696	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:196749473A>G	ENST00000312428.6	-	35	5699	c.5599T>C	c.(5599-5601)Ttg>Ctg	p.L1867L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1867					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAAATTTCAATCGATCATCA	0.358000													11	34					0	0	0.013537	0	0
OC90	729330	broad.mit.edu	37	8	133036754	133036754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133036754C>A	ENST00000262283.5	-	18	2143	c.2044G>T	c.(2044-2046)Ggg>Tgg	p.G682W	OC90_ENST00000603859.1_Missense_Mutation_p.G470W|OC90_ENST00000443356.2_Missense_Mutation_p.G486W|OC90_ENST00000254627.3_Missense_Mutation_p.G470W			Q02509	OC90_HUMAN	otoconin 90	486					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCCCGATCCCCAAGGGACCC	0.582000													13	25					3.27435e-08	4.11726e-08	0.002450	1	0
PLXND1	23129	broad.mit.edu	37	3	129304823	129304823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129304823G>A	ENST00000393239.1	-	5	2001	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PLXND1_ENST00000324093.4_Missense_Mutation_p.S608F			Q9Y4D7	PLXD1_HUMAN	plexin D1	608					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATCGATCTCGGAAGGCAGGAC	0.657000													10	213					0	0	0.013537	0	0
SELE	6401	broad.mit.edu	37	1	169696913	169696913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169696913C>A	ENST00000333360.7	-	9	1574	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*	SELE_ENST00000367780.4_Nonsense_Mutation_p.G354*|SELE_ENST00000367776.1_Nonsense_Mutation_p.G416*|SELE_ENST00000367782.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.G416*|SELE_ENST00000367777.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Nonsense_Mutation_p.G354*|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	479	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTCCATTGTCCCTGAGATGTG	0.428000													31	99					9.65021e-13	1.32638e-12	0.010818	1	0
GBAS	2631	broad.mit.edu	37	7	56062652	56062652	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:56062652G>A	ENST00000322090.3	+	8	712	c.683G>A	c.(682-684)gGg>gAg	p.G228E	GBAS_ENST00000446778.1_Missense_Mutation_p.G189E	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	228						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCAGATTGGGCAGCTGTAC	0.453000													34	669					0	0	0.013726	0	0
RELN	5649	broad.mit.edu	37	7	103194255	103194255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103194255C>A	ENST00000428762.1	-	39	5980	c.5821G>T	c.(5821-5823)Gtt>Ttt	p.V1941F	RELN_ENST00000343529.5_Missense_Mutation_p.V1941F|RELN_ENST00000424685.2_Missense_Mutation_p.V1941F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1941					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTCATCAACAATCCAGATT	0.348000													11	54					6.40141e-05	7.39072e-05	0.010729	1	0
KISS1	3814	broad.mit.edu	37	1	204159795	204159795	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204159795G>T	ENST00000367194.4	-	3	382	c.234C>A	c.(232-234)tcC>tcA	p.S78S		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	78					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		GGGGGCTCCCGGAGCTCTCGG	0.751000													5	13					1.024e-07	1.27749e-07	0.000602	1	0
ZNF222	7673	broad.mit.edu	37	19	44536052	44536052	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44536052A>G	ENST00000187879.8	+	4	387	c.225A>G	c.(223-225)caA>caG	p.Q75Q	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.Q115Q	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TTTGGGAACAAATTGCAAGTG	0.403000													21	54					0	0	0.010504	0	0
OR52A1	23538	broad.mit.edu	37	11	5173083	5173083	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5173083G>A	ENST00000380367.1	-	2	934	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	OR52A1_ENST00000328942.1_Missense_Mutation_p.H173Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	173					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTTGTGTGATAAAATTGA	0.443000													31	55					0	0	0.009535	0	0
MINPP1	9562	broad.mit.edu	37	10	89264702	89264702	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:89264702G>T	ENST00000371996.4	+	1	71	c.30G>T	c.(28-30)cgG>cgT	p.R10R	MINPP1_ENST00000371994.4_Silent_p.R10R	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	10					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCCTCCTCCGGACCTCCGTAG	0.731000													6	23					0.00116845	0.00130398	0.001168	1	0
BBOX1	8424	broad.mit.edu	37	11	27147273	27147273	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27147273T>A	ENST00000263182.3	+	8	1277	c.909T>A	c.(907-909)ccT>ccA	p.P303P	BBOX1_ENST00000529202.1_Silent_p.P303P|BBOX1_ENST00000525090.1_Silent_p.P303P|BBOX1_ENST00000528583.1_Silent_p.P303P|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	303					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ttgatgtgcctgttgaaagag	0.373000													3	12					0	0	0.004672	0	0
DHRS9	10170	broad.mit.edu	37	2	169938164	169938164	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:169938164G>A	ENST00000327239.4	+	5	1577	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	DHRS9_ENST00000602501.1_Missense_Mutation_p.E25K|DHRS9_ENST00000432060.2_Missense_Mutation_p.E85K|DHRS9_ENST00000436483.2_Missense_Mutation_p.E25K|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.E25K|DHRS9_ENST00000428522.1_Missense_Mutation_p.E25K|DHRS9_ENST00000412271.1_Missense_Mutation_p.E25K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	25					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTAAAGATTGAAGACATCAC	0.418000													24	59					0	0	0.003330	0	0
PPBP	5473	broad.mit.edu	37	4	74853045	74853045	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:74853045G>A	ENST00000296028.3	-	3	424	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	111					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	p.P111T(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428000													22	65					0	0	0.012319	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263521	70263521	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:70263521G>A	ENST00000216540.4	-	1	485	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	118					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		GCCTACCTGAGGTTCATGTCC	0.547000													10	24					0	0	0.006214	0	0
FNTB	2342	broad.mit.edu	37	14	65511158	65511158	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:65511158C>G	ENST00000246166.2	+	9	1186	c.952C>G	c.(952-954)Caa>Gaa	p.Q318E	CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.Q352E|CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.Q272E|CHURC1-FNTB_ENST00000448390.2_Missense_Mutation_p.Q74E|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTGCACGCCCAAGGTGAGCC	0.592000													28	96					0	0	0.007291	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542404	133542404	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:133542404C>G	ENST00000409261.1	-	14	2353	c.1980G>C	c.(1978-1980)agG>agC	p.R660S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R660S|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	660							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGAAGAAGTCCTTTTTACAA	0.443000													31	89					0	0	0.009535	0	0
ACE	1636	broad.mit.edu	37	17	61566111	61566111	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:61566111C>A	ENST00000577647.1	+	5	731	c.686C>A	c.(685-687)cCg>cAg	p.P229Q	ACE_ENST00000290863.6_Missense_Mutation_p.P229Q|ACE_ENST00000490216.2_Missense_Mutation_p.P229Q|ACE_ENST00000413513.3_Missense_Mutation_p.P229Q|ACE_ENST00000421982.2_Missense_Mutation_p.P113Q|ACE_ENST00000290866.4_Missense_Mutation_p.P803Q|ACE_ENST00000428043.1_Missense_Mutation_p.P803Q			P12821	ACE_HUMAN	angiotensin I converting enzyme	803	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.P803Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTTTTACCCGAAATACGTG	0.552000													11	58					0.000673444	0.00075688	0.008291	1	0
TCERG1L	256536	broad.mit.edu	37	10	132965138	132965138	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:132965138T>C	ENST00000368642.4	-	5	952	c.867A>G	c.(865-867)acA>acG	p.T289T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	289										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGCCCCGCTCTGTCCTTGTAT	0.527000													7	32					0	0	0.001984	0	0
OR10A6	390093	broad.mit.edu	37	11	7949914	7949914	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:7949914G>T	ENST00000309838.2	-	1	295	c.296C>A	c.(295-297)gCa>gAa	p.A99E		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACATCTGTGCAAAACAGCC	0.428000													21	59					2.32416e-17	3.40841e-17	0.014323	1	0
FAM24A	118670	broad.mit.edu	37	10	124672281	124672281	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:124672281T>A	ENST00000368894.1	+	3	250	c.129T>A	c.(127-129)gcT>gcA	p.A43A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	43						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCTTAAGAGCTGCAAAGGACC	0.473000													29	66					0	0	0.007291	0	0
OR10A7	121364	broad.mit.edu	37	12	55615713	55615713	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:55615713A>G	ENST00000326258.1	+	1	905	c.905A>G	c.(904-906)aAg>aGg	p.K302R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGGGCTGTCAAGAGGACAATC	0.428000													5	35					0	0	0.000602	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877998	76877998	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76877998G>A	ENST00000328299.3	+	3	667	c.519G>A	c.(517-519)ttG>ttA	p.L173L	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	173					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACAACATGTTGAAAAAGACAG	0.393000													19	68					0	0	0.008871	0	0
JARID2	3720	broad.mit.edu	37	6	15497018	15497018	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:15497018C>G	ENST00000341776.2	+	7	1806	c.1562C>G	c.(1561-1563)tCc>tGc	p.S521C	JARID2_ENST00000541660.1_Missense_Mutation_p.S483C|JARID2_ENST00000397311.3_Missense_Mutation_p.S349C	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	521					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GACAGCGCCTCCTGTGAAAAT	0.677000													13	41					0	0	0.001855	0	0
COL11A2	1302	broad.mit.edu	37	6	33133582	33133582	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:33133582G>T	ENST00000341947.2	-	63	4721	c.4494C>A	c.(4492-4494)ggC>ggA	p.G1498G	COL11A2_ENST00000374708.4_Silent_p.G1412G|COL11A2_ENST00000395197.1_Silent_p.G1438G|COL11A2_ENST00000374713.1_Silent_p.G1451G|COL11A2_ENST00000361917.1_Silent_p.G1391G|COL11A2_ENST00000374712.1_Silent_p.G1417G|COL11A2_ENST00000357486.1_Silent_p.G1477G|COL11A2_ENST00000374714.1_Silent_p.G1472G|COL11A2_ENST00000477772.1_5'UTR	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1498	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGATCACCTCGCCTGGGGGAC	0.627000													17	69					6.94344e-10	9.0909e-10	0.006122	1	0
KIF15	56992	broad.mit.edu	37	3	44894181	44894181	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:44894181G>A	ENST00000326047.4	+	35	4270	c.4121G>A	c.(4120-4122)cGt>cAt	p.R1374H	KIF15_ENST00000425755.1_Missense_Mutation_p.R1009H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1374					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGTTGCGTGCCGAAAAT	0.318000													7	24					0	0	0.004482	0	0
RELA	5970	broad.mit.edu	37	11	65421990	65421990	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65421990T>A	ENST00000406246.3	-	11	1776	c.1515A>T	c.(1513-1515)acA>acT	p.T505T	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Silent_p.T502T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	505					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCTGGGCCCCTGTCACTAGGC	0.632000													17	42					0	0	0.004007	0	0
XIRP1	165904	broad.mit.edu	37	3	39228156	39228156	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:39228156C>A	ENST00000340369.3	-	2	3009	c.2781G>T	c.(2779-2781)caG>caT	p.Q927H	XIRP1_ENST00000396251.1_Missense_Mutation_p.Q927H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	927							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGCCAACAGCTGCACGCTGC	0.647000													26	40					1.7881e-09	2.32197e-09	0.008361	1	0
SIK3	23387	broad.mit.edu	37	11	116797940	116797940	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:116797940A>T	ENST00000375300.1	-	4	616	c.611T>A	c.(610-612)aTa>aAa	p.I204K	SIK3_ENST00000434315.2_Missense_Mutation_p.I45K|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.I146K|SIK3_ENST00000292055.4_Missense_Mutation_p.I146K|SIK3_ENST00000446921.2_Missense_Mutation_p.I204K			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	146	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCACCTGCTATTTTGATATT	0.398000													25	58					0	0	0.002780	0	0
CUL4A	8451	broad.mit.edu	37	13	113887572	113887572	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:113887572G>A	ENST00000451881.1	+	6	543	c.294G>A	c.(292-294)ctG>ctA	p.L98L	CUL4A_ENST00000326335.4_Silent_p.L98L|CUL4A_ENST00000375440.4_Silent_p.L198L|CUL4A_ENST00000375441.3_Silent_p.L98L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	198					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAATCCTACTGCTGATCGAGC	0.512000													43	38					0	0	0.013114	0	0
BCORL1	63035	broad.mit.edu	37	X	129149413	129149413	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:129149413C>T	ENST00000540052.1	+	3	2709	c.2665C>T	c.(2665-2667)Cca>Tca	p.P889S	BCORL1_ENST00000218147.7_Missense_Mutation_p.P889S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P889S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P889S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	889					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGGGCAACCACGGCCTGG	0.572000													19	25					0	0	0.007413	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687958	27687958	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27687958C>A	ENST00000438700.3	-	4	1686	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	523	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGCAAAATAACAGGGTCATTC	0.388000													18	69					0.000958276	0.0010732	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9059669	9059669	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9059669G>T	ENST00000397910.4	-	3	27980	c.27777C>A	c.(27775-27777)ccC>ccA	p.P9259P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9261	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTCCTGTGGGGTAGGTGA	0.468000													32	43					3.99451e-17	5.8445e-17	0.009535	1	0
TRPC1	7220	broad.mit.edu	37	3	142523472	142523472	+	Splice_Site	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:142523472G>C	ENST00000273482.6	+	11	2443	c.2052_splice	c.e11+1	p.K684_splice	TRPC1_ENST00000476941.1_Splice_Site_p.K718_splice	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	718					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACAGTTTAAAGGTAAGAAATT	0.373000													12	35					0	0	0.010729	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702471	27702471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27702471G>A	ENST00000438700.3	-	1	826	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	237					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGCAGATCCTGCACCGCGCCG	0.617000													6	53					0	0	0.001168	0	0
GRIP2	80852	broad.mit.edu	37	3	14555833	14555833	+	RNA	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:14555833A>C	ENST00000273083.3	-	0	1524							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GATGAAGCACACGAGGGGTGG	0.642000													3	3					0	0	0.009096	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453670	84453670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:84453670G>T	ENST00000377084.2	-	1	2858	c.1973C>A	c.(1972-1974)gCg>gAg	p.A658E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATCTCGGACGCGGAGGAGTT	0.552000													20	24					1.40151e-16	2.03187e-16	0.010504	1	0
LAMA1	284217	broad.mit.edu	37	18	6955459	6955459	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:6955459C>T	ENST00000389658.3	-	57	8193	c.8100G>A	c.(8098-8100)caG>caA	p.Q2700Q	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2700					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCACACACTGTTCCTGTA	0.557000													18	13					0	0	0.006122	0	0
POPDC3	64208	broad.mit.edu	37	6	105606590	105606590	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:105606590A>T	ENST00000254765.3	-	4	909	c.631T>A	c.(631-633)Tct>Act	p.S211T	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	211						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCCTCCAAGACACATATCGA	0.403000													61	163					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240370893	240370893	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240370893C>T	ENST00000319653.9	+	5	3011	c.2781C>T	c.(2779-2781)ccC>ccT	p.P927P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	927	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCTCTACCCGGAGCAGGCA	0.682000													29	103					0	0	0.007291	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372067	81372067	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:81372067G>T	ENST00000398636.3	+	4	310		c.e4-1		SFTPA1_ENST00000372308.3_Splice_Site|SFTPA1_ENST00000372313.5_Splice_Site|SFTPA1_ENST00000428376.2_Splice_Site|SFTPA1_ENST00000419470.2_Splice_Site	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTTCTCTGCAGGCCCCATGGG	0.567000													100	264					7.59261e-44	1.22368e-43	0.014410	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20893179	20893179	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:20893179T>C	ENST00000381552.1	+	12	1978	c.1610T>C	c.(1609-1611)aTa>aCa	p.I537T	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I537T|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I419T|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.I488T|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.I537T			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	537					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCCTCAGGCATAGTGGGAAGA	0.388000													18	72					0	0	0.006122	0	0
TIMM50	92609	broad.mit.edu	37	19	39976376	39976376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:39976376G>T	ENST00000314349.4	+	6	863	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	TIMM50_ENST00000607714.1_Nonsense_Mutation_p.E141*|TIMM50_ENST00000544017.1_Nonsense_Mutation_p.E28*|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	141	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCTCTGCAGGAACCGTACTA	0.627000													16	75					6.49762e-13	8.96954e-13	0.006122	1	0
KAT6A	7994	broad.mit.edu	37	8	41836253	41836253	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:41836253C>G	ENST00000396930.3	-	7	1493	c.950G>C	c.(949-951)cGa>cCa	p.R317P	KAT6A_ENST00000485568.1_Missense_Mutation_p.R317P|KAT6A_ENST00000265713.2_Missense_Mutation_p.R317P|KAT6A_ENST00000406337.1_Missense_Mutation_p.R317P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	317	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TAGAAGTTTTCGTCCTTTTTT	0.353000													33	110					0	0	0.010818	0	0
MYO1C	4641	broad.mit.edu	37	17	1381744	1381744	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:1381744G>A	ENST00000359786.5	-	11	1579	c.1255C>T	c.(1255-1257)Ctc>Ttc	p.L419F	MYO1C_ENST00000438665.2_Missense_Mutation_p.L400F|MYO1C_ENST00000575158.1_Missense_Mutation_p.L384F|MYO1C_ENST00000545534.2_Missense_Mutation_p.L395F|MYO1C_ENST00000361007.2_Missense_Mutation_p.L384F	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	419	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATATCCAGGAGCCCGAGAACC	0.622000													25	45					0	0	0.003954	0	0
CNOT6L	246175	broad.mit.edu	37	4	78650155	78650155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:78650155C>T	ENST00000504123.1	-	10	1235	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	CNOT6L_ENST00000264903.4_Missense_Mutation_p.D369N			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	369					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGCTTCACATCAGAATACTCT	0.428000													40	95					0	0	0.014410	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053694	13053694	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:13053694G>A	ENST00000379350.1	+	4	477	c.348G>A	c.(346-348)ctG>ctA	p.L116L	PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000332995.7_Silent_p.L116L|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000379345.2_5'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	116						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTGCCAACCTGGGAAGGATTT	0.507000													8	25					0	0	0.003080	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701711	103701711	+	Missense_Mutation	SNP	G	G	C	rs144946104		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:103701711G>C	ENST00000245312.3	-	5	1443	c.847C>G	c.(847-849)Ctc>Gtc	p.L283V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	283					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACGACATTGAGCTCCTCAGGA	0.473000													34	21					0	0	0.013726	0	0
GCOM1	145781	broad.mit.edu	37	15	57953656	57953656	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:57953656A>G	ENST00000574161.1	+	11	1247	c.1128A>G	c.(1126-1128)tcA>tcG	p.S376S	GCOM1_ENST00000380560.2_Silent_p.S307S|GCOM1_ENST00000396180.1_Silent_p.S345S|MYZAP_ENST00000267853.5_Silent_p.S376S|MYZAP_ENST00000380565.4_Intron|GCOM1_ENST00000380568.3_Silent_p.S376S|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Silent_p.S376S|GCOM1_ENST00000380569.2_Silent_p.S376S|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Intron	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		376					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGATTGAATCATTAAAGAAAA	0.318000													6	24					0	0	0.001168	0	0
FOXC2	2303	broad.mit.edu	37	16	86602395	86602395	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:86602395C>A	ENST00000320354.4	+	1	1539	c.1454C>A	c.(1453-1455)cCg>cAg	p.P485Q		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	485					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AGATCCACGCCGCCTCTCTAT	0.647000									Late-onset Hereditary Lymphedema				39	25					8.16277e-20	1.21961e-19	0.006999	1	0
FCGBP	8857	broad.mit.edu	37	19	40395926	40395926	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40395926G>A	ENST00000221347.6	-	15	7478	c.7471C>T	c.(7471-7473)Cgg>Tgg	p.R2491W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2491	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGCAAACCGATGTAGGCCA	0.627000													5	259					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179534147	179534147	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179534147T>G	ENST00000589042.1	-	159	35722	c.35498A>C	c.(35497-35499)cAa>cCa	p.Q11833P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9960	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTCTTCTTGAACACTTTT	0.289000													4	4					0	0	0.009096	0	0
GAGE12H	729442	broad.mit.edu	37	X	49346301	49346301	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:49346301G>A	ENST00000381722.1	+	3	212	c.130G>A	c.(130-132)Ggg>Agg	p.G44R		NM_001098410.1	NP_001091880.1			G antigen 12H													Ovarian(276;0.236)					ACCTGAAGAAGGGGAACCAGC	0.488000													74	205					0	0	0.014410	0	0
PSG11	5680	broad.mit.edu	37	19	43529172	43529172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:43529172G>T	ENST00000401740.1	-	2	204	c.101C>A	c.(100-102)gCc>gAc	p.A34D	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A34D|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	34					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATGACTTGGGCAGTGGTAGG	0.478000													64	189					8.81991e-31	1.39319e-30	0.014410	1	0
WDR17	116966	broad.mit.edu	37	4	177084375	177084375	+	Missense_Mutation	SNP	A	A	T	rs141454308	by1000genomes	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177084375A>T	ENST00000393643.2	+	22	3173	c.2921A>T	c.(2920-2922)gAg>gTg	p.E974V	WDR17_ENST00000507824.2_Missense_Mutation_p.E981V|WDR17_ENST00000508596.1_Missense_Mutation_p.E974V|WDR17_ENST00000280190.4_Missense_Mutation_p.E998V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	998										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTACTAGGAGAGTCTGCAGCA	0.408000													24	49					0	0	0.003330	0	0
CTNND1	1500	broad.mit.edu	37	11	57559055	57559055	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57559055C>G	ENST00000524630.1	+	3	618	c.105C>G	c.(103-105)cgC>cgG	p.R35R	CTNND1_ENST00000360682.6_Silent_p.R35R|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529919.1_Silent_p.R35R|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000361391.6_Silent_p.R35R|CTNND1_ENST00000361796.4_Silent_p.R35R|CTNND1_ENST00000526357.1_5'UTR|TMX2-CTNND1_ENST00000528395.1_3'UTR|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000428599.2_Silent_p.R35R|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000529986.1_Intron|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000358694.6_Silent_p.R35R|CTNND1_ENST00000361332.4_Silent_p.R35R|CTNND1_ENST00000399039.4_Silent_p.R35R|CTNND1_ENST00000526938.1_Silent_p.R35R|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000399050.4_Silent_p.R35R|CTNND1_ENST00000529526.1_5'UTR			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	35					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGGAACGGCGCCACGTCTCGG	0.637000													9	30					0	0	0.004482	0	0
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577000													45	120					0	0	0.011902	0	0
FGFR1	2260	broad.mit.edu	37	8	38287450	38287450	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:38287450G>A	ENST00000341462.5	-	3	1049	c.108C>T	c.(106-108)gcC>gcT	p.A36A	FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000447712.2_Silent_p.A36A|FGFR1_ENST00000425967.3_Silent_p.A69A|FGFR1_ENST00000397091.5_Silent_p.A36A|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Silent_p.A36A|FGFR1_ENST00000397113.2_Silent_p.A36A|FGFR1_ENST00000335922.5_Silent_p.A28A|FGFR1_ENST00000532791.1_Silent_p.A36A			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	36	Ig-like C2-type 1.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCCACAGGGGCTCCCCAGG	0.672000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						82	19					0	0	0.014410	0	0
ZNF560	147741	broad.mit.edu	37	19	9578043	9578043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9578043G>A	ENST00000301480.4	-	10	1793	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGCAGAAGAGGTAAATGG	0.398000													36	35					0	0	0.003755	0	0
SUV420H2	84787	broad.mit.edu	37	19	55853662	55853662	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55853662G>C	ENST00000255613.3	+	3	438	c.190G>C	c.(190-192)Gcg>Ccg	p.A64P	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCTGGAGGCTGCGTACCGGGC	0.726000													5	13					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179470318	179470318	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179470318G>T	ENST00000589042.1	-	279	53928	c.53704C>A	c.(53704-53706)Cgg>Agg	p.R17902R	TTN_ENST00000342175.6_Silent_p.R9029R|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.R8837R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.R8962R|TTN_ENST00000591111.1_Silent_p.R16261R|TTN_ENST00000342992.6_Silent_p.R15334R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16261	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATGACGCCGTTTTTCAATG	0.433000													26	97					4.59853e-10	6.08347e-10	0.005443	1	0
TCP11L1	55346	broad.mit.edu	37	11	33094117	33094117	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:33094117G>A	ENST00000334274.4	+	10	1825	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	TCP11L1_ENST00000324357.9_Silent_p.E254E|TCP11L1_ENST00000432887.1_Silent_p.E475E|TCP11L1_ENST00000531632.2_Silent_p.E475E	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	475										kidney(1)|liver(2)|lung(2)|skin(1)	6						TTCAGAGAGAGCTGGAGGAAG	0.493000													47	124					0	0	0.010771	0	0
ADAM29	11086	broad.mit.edu	37	4	175896769	175896769	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:175896769G>T	ENST00000359240.3	+	5	763	c.93G>T	c.(91-93)ccG>ccT	p.P31P	ADAM29_ENST00000445694.1_Silent_p.P31P|ADAM29_ENST00000404450.4_Silent_p.P31P|ADAM29_ENST00000514159.1_Silent_p.P31P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAGCCCTCCGGATGTGGTGA	0.517000													25	54					4.4004e-07	5.39432e-07	0.003330	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816796	43816796	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:43816796C>T	ENST00000377564.3	+	6	1295	c.902C>T	c.(901-903)tCc>tTc	p.S301F	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S301F	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	301	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AAGGGAGATTCCAGTAACTTG	0.388000													16	57					0	0	0.002780	0	0
VSTM4	196740	broad.mit.edu	37	10	50315863	50315863	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50315863A>T	ENST00000332853.3	-	2	256	c.233T>A	c.(232-234)aTg>aAg	p.M78K	VSTM4_ENST00000298454.3_Missense_Mutation_p.M78K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	78	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GAGCTTGGTCATCTTCACCAT	0.627000													7	47					0	0	0.001855	0	0
FAS	355	broad.mit.edu	37	10	90768682	90768682	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:90768682A>G	ENST00000355740.2	+	4	591	c.371A>G	c.(370-372)aAt>aGt	p.N124S	FAS_ENST00000357339.2_Missense_Mutation_p.N124S|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Missense_Mutation_p.N124S|FAS_ENST00000355279.2_Missense_Mutation_p.N124S	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	124					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CGGACCCAGAATACCAAGTGC	0.363000													136	359					0	0	0.014410	0	0
ZNF207	7756	broad.mit.edu	37	17	30692368	30692368	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:30692368A>T	ENST00000394670.4	+	8	859	c.690A>T	c.(688-690)ccA>ccT	p.P230P	ZNF207_ENST00000342555.6_Silent_p.P233P|ZNF207_ENST00000577908.1_Silent_p.P230P|ZNF207_ENST00000341711.6_Silent_p.P131P|ZNF207_ENST00000321233.6_Silent_p.P214P|ZNF207_ENST00000394673.2_Silent_p.P230P	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCTGTTCCACGTCCTGGAA	0.458000													49	81					0	0	0.014410	0	0
SLC5A4	6527	broad.mit.edu	37	22	32651265	32651265	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:32651265G>C	ENST00000266086.4	-	1	63	c.52C>G	c.(52-54)Cca>Gca	p.P18A	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	18					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGACAATGGAGGTGGCTCT	0.522000											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	71	209					0	0	0.014410	0	0
OR2L8	391190	broad.mit.edu	37	1	248112456	248112456	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:248112456G>T	ENST00000357191.3	+	1	297	c.297G>T	c.(295-297)caG>caT	p.Q99H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGGGATTCAGAGTTTCTTCT	0.428000													77	212					2.65773e-34	4.25103e-34	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179639041	179639041	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179639041C>A	ENST00000589042.1	-	30	7174	c.6950G>T	c.(6949-6951)cGt>cTt	p.R2317L	TTN_ENST00000342175.6_Missense_Mutation_p.R2271L|TTN_ENST00000460472.2_Missense_Mutation_p.R2271L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R2271L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R2317L|TTN_ENST00000342992.6_Missense_Mutation_p.R2317L|TTN_ENST00000360870.5_Missense_Mutation_p.R2317L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2032	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2271H(3)|p.R2317H(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGTCCACGACGAGATGTAAT	0.408000													34	88					3.62531e-18	5.36613e-18	0.004289	1	0
ARFGAP2	84364	broad.mit.edu	37	11	47197400	47197400	+	Splice_Site	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47197400A>T	ENST00000524782.1	-	3	493		c.e3+1		ARFGAP2_ENST00000395449.3_Splice_Site|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Splice_Site|ARFGAP2_ENST00000419701.2_Splice_Site	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGGAGCTTTACCGCATTGGC	0.537000													9	34					0	0	0.013537	0	0
PLG	5340	broad.mit.edu	37	6	161128796	161128796	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161128796A>G	ENST00000308192.9	+	3	313	c.250A>G	c.(250-252)Ata>Gta	p.I84V	PLG_ENST00000366924.2_Missense_Mutation_p.I84V|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	84	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGTCCTCCATAATCATTAG	0.408000													47	143					0	0	0.014410	0	0
AP3B2	8120	broad.mit.edu	37	15	83328416	83328416	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:83328416G>A	ENST00000261722.3	-	26	3352	c.3145C>T	c.(3145-3147)Ctg>Ttg	p.L1049L	AP3B2_ENST00000535348.1_Silent_p.L1017L|AP3B2_ENST00000535359.1_Silent_p.L1068L|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1049					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGCATCCAGGGTCAGCAGA	0.562000													14	43					0	0	0.001855	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020099	55020099	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:55020099C>T	ENST00000324000.3	+	1	2056	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	8					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAAAATGGCCCGGGTCGCCAG	0.572000													15	34					0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237951287	237951287	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237951287G>A	ENST00000366574.2	+	92	13645		c.e92-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTTCATAGGGGAGAAGAT	0.403000													5	6					0	0	0.000602	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727611	154727611	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:154727611G>A	ENST00000607772.1	-	13	2089	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	CNKSR3_ENST00000479339.1_Silent_p.A435A|CNKSR3_ENST00000433165.2_Silent_p.A340A	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATGGAATCGTGGCGCTGCTGT	0.582000													32	70					0	0	0.010818	0	0
SNHG14	104472715	broad.mit.edu	37	15	25230128	25230128	+	RNA	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:25230128T>C	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						AAAACTCTTATCATTTATTCT	0.343000													4	13					0	0	0.009096	0	0
TRIM25	7706	broad.mit.edu	37	17	54990924	54990924	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:54990924G>A	ENST00000316881.4	-	1	475	c.426C>T	c.(424-426)gaC>gaT	p.D142D	TRIM25_ENST00000537230.1_Silent_p.D142D	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	142					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCAGCGGGTGGTCCTGGAAGG	0.637000													19	29					0	0	0.008871	0	0
C10orf53	282966	broad.mit.edu	37	10	50916545	50916545	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50916545T>A	ENST00000374112.3	+	3	368	c.356T>A	c.(355-357)gTa>gAa	p.V119E	C10orf53_ENST00000535836.1_Missense_Mutation_p.V119E	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				acttgtactgtattggcccag	0.488000													61	165					0	0	0.014410	0	0
OR5L1	219437	broad.mit.edu	37	11	55579097	55579097	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55579097G>T	ENST00000333973.2	+	1	244	c.155G>T	c.(154-156)aGc>aTc	p.S52I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S52N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.478000													84	230					1.32764e-51	2.15614e-51	0.014410	1	0
ENPP5	59084	broad.mit.edu	37	6	46135435	46135435	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46135435C>A	ENST00000371383.2	-	3	825	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.D189Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	189						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCATCAGGGTCTTCCCAATAG	0.418000													27	61					3.6726e-16	5.27625e-16	0.003954	1	0
CD1D	912	broad.mit.edu	37	1	158151871	158151871	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:158151871C>T	ENST00000368171.3	+	4	877	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	126					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACCCTGGGAACGCCTCAAATA	0.493000													55	169					0	0	0.014410	0	0
AP3B2	8120	broad.mit.edu	37	15	83328417	83328417	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:83328417G>T	ENST00000261722.3	-	26	3351	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T	AP3B2_ENST00000535348.1_Silent_p.T1016T|AP3B2_ENST00000535359.1_Silent_p.T1067T|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1048					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGCATCCAGGGTCAGCAGAA	0.562000													14	42					1.5842e-08	2.01597e-08	0.001855	1	0
DACH2	117154	broad.mit.edu	37	X	85950137	85950137	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:85950137G>T	ENST00000373131.1	+	4	1010	c.847G>T	c.(847-849)Gct>Tct	p.A283S	DACH2_ENST00000508860.1_Missense_Mutation_p.A129S|DACH2_ENST00000373125.4_Missense_Mutation_p.A296S|DACH2_ENST00000510272.1_Missense_Mutation_p.A77S	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CATTGGGGGTGCTCCAACCCT	0.498000													8	4					5.18039e-06	6.12579e-06	0.003080	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717001	142717001	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:142717001C>A	ENST00000381779.4	-	2	2149	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V642F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V642F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	642						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CGTCGCAGGACAAAAACAAGA	0.478000													53	28					9.57592e-29	1.50141e-28	0.014410	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5306737	5306737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5306737C>A	ENST00000274181.7	+	21	3445	c.3307C>A	c.(3307-3309)Ctg>Atg	p.L1103M		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1103	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAAGCCCAGCCTGGAGCTGGA	0.562000													15	47					1.52009e-12	2.08479e-12	0.003163	1	0
SNX14	57231	broad.mit.edu	37	6	86256905	86256905	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:86256905C>T	ENST00000314673.3	-	12	1209	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	SNX14_ENST00000513865.1_Missense_Mutation_p.D345N|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.D293N|SNX14_ENST00000369627.2_Missense_Mutation_p.D345N|SNX14_ENST00000346348.3_Missense_Mutation_p.D301N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	345	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AATAAAAGATCTTGTTGCTCT	0.343000													6	12					0	0	0.001168	0	0
GPR111	222611	broad.mit.edu	37	6	47649740	47649740	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:47649740A>G	ENST00000398742.2	+	5	1290	c.1241A>G	c.(1240-1242)tAt>tGt	p.Y414C	GPR111_ENST00000507065.1_Missense_Mutation_p.Y414C|GPR111_ENST00000296862.1_Missense_Mutation_p.Y482C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	482	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGATCACCTATTTACGCCAT	0.463000													15	60					0	0	0.002450	0	0
CHD7	55636	broad.mit.edu	37	8	61774807	61774807	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:61774807A>G	ENST00000423902.2	+	36	8362	c.7883A>G	c.(7882-7884)cAt>cGt	p.H2628R	CHD7_ENST00000524602.1_Missense_Mutation_p.H579R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2628					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGAAACGACATAGATGTCGA	0.353000													7	11					0	0	0.001984	0	0
NOX3	50508	broad.mit.edu	37	6	155718053	155718053	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:155718053T>C	ENST00000159060.2	-	13	1726	c.1624A>G	c.(1624-1626)Agg>Ggg	p.R542G		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	542							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTGTCCTCGAGAGAGCT	0.468000													28	69					0	0	0.004656	0	0
MED6	10001	broad.mit.edu	37	14	71058034	71058034	+	Silent	SNP	C	C	A	rs149635535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:71058034C>A	ENST00000256379.5	-	6	560	c.531G>T	c.(529-531)gtG>gtT	p.V177V	MED6_ENST00000440435.2_Intron|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000430055.2_Silent_p.V184V|MED6_ENST00000554963.1_Silent_p.V177V	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	177					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		GTAAAGCATCCACACGTTGTC	0.353000													14	40					1.15088e-07	1.42458e-07	0.004007	1	0
OR51B5	282763	broad.mit.edu	37	11	5364443	5364443	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5364443T>A	ENST00000300773.2	-	1	366	c.312A>T	c.(310-312)tcA>tcT	p.S104S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGAAAGTGAGTGTATAA	0.507000													14	49					0	0	0.001855	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510777	110510777	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110510777T>C	ENST00000378402.5	+	66	10790	c.10686T>C	c.(10684-10686)gcT>gcC	p.A3562A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3562					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACTGCTGCTCATCGGAGTC	0.343000										HNSCC(38;0.096)			18	47					0	0	0.010504	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916538	65916538	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65916538C>T	ENST00000261892.6	+	2	407	c.120C>T	c.(118-120)caC>caT	p.H40H	SLC24A1_ENST00000399033.4_Silent_p.H40H|SLC24A1_ENST00000339868.6_Silent_p.H40H|SLC24A1_ENST00000546330.1_Silent_p.H40H|SLC24A1_ENST00000544319.2_Silent_p.H40H|SLC24A1_ENST00000537259.1_Silent_p.H40H	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	40					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTATCAGCACCTTAGGAGAC	0.532000													20	89					0	0	0.008871	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676728	65676728	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65676728G>T	ENST00000352385.2	-	20	3581	c.3372C>A	c.(3370-3372)gcC>gcA	p.A1124A	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1124						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTTCCTGCAGGCTGGGGGTG	0.522000													98	123					5.66435e-50	9.17567e-50	0.014410	1	0
SON	6651	broad.mit.edu	37	21	34923211	34923211	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:34923211G>T	ENST00000356577.4	+	3	2149	c.1674G>T	c.(1672-1674)ctG>ctT	p.L558L	SON_ENST00000300278.4_Silent_p.L558L|SON_ENST00000381679.4_Silent_p.L558L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.L558L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	558					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CGACAGCGCTGGAGTTGCCGG	0.647000													25	82					2.21704e-12	3.03409e-12	0.002780	1	0
PLXNC1	10154	broad.mit.edu	37	12	94603380	94603380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94603380G>A	ENST00000258526.4	+	5	1703	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	485					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTTTTCAAGGAGATTGTGTA	0.388000													36	149					0	0	0.005524	0	0
HEATR5A	25938	broad.mit.edu	37	14	31852842	31852842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:31852842C>T	ENST00000543095.2	-	10	1665	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R201Q|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R488Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R488Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R494Q	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	488							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAGTAAGCCGTTCAAGGCA	0.473000													55	113					0	0	0.014410	0	0
GHDC	84514	broad.mit.edu	37	17	40344951	40344951	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40344951G>C	ENST00000301671.8	-	3	801	c.360C>G	c.(358-360)aaC>aaG	p.N120K	GHDC_ENST00000436923.2_Missense_Mutation_p.N120K|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000587427.1_Missense_Mutation_p.N120K|GHDC_ENST00000414034.3_Missense_Mutation_p.N120K|GHDC_ENST00000593209.1_Missense_Mutation_p.N120K			Q8N2G8	GHDC_HUMAN	GH3 domain containing	120						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAAGGTCCTGGTTTGAGGTCG	0.592000													44	120					0	0	0.013114	0	0
EPHB1	2047	broad.mit.edu	37	3	134911580	134911580	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:134911580G>T	ENST00000398015.3	+	11	2415	c.2045G>T	c.(2044-2046)cGc>cTc	p.R682L	EPHB1_ENST00000493838.1_Missense_Mutation_p.R243L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	682	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACATCATTCGCCTGGAGGGT	0.537000													21	38					7.92052e-27	1.23273e-26	0.014323	1	0
NFXL1	152518	broad.mit.edu	37	4	47853907	47853907	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47853907G>T	ENST00000507489.1	-	21	2650	c.2474C>A	c.(2473-2475)aCa>aAa	p.T825K	NFXL1_ENST00000381538.3_Missense_Mutation_p.T825K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	825						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTTGCACGTTGTGTCACATTC	0.353000													18	72					1.15919e-05	1.3606e-05	0.008871	1	0
CREB5	9586	broad.mit.edu	37	7	28857725	28857725	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:28857725T>A	ENST00000357727.2	+	10	1682	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	CREB5_ENST00000396298.2_Missense_Mutation_p.L292Q|CREB5_ENST00000409603.1_Missense_Mutation_p.L398Q|CREB5_ENST00000396300.2_Missense_Mutation_p.L424Q|CREB5_ENST00000396299.2_Missense_Mutation_p.L398Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	431	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GTGGCCCAGCTGAAACAGTTG	0.388000													20	78					0	0	0.012319	0	0
KLHL25	64410	broad.mit.edu	37	15	86312264	86312264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:86312264C>A	ENST00000337975.5	-	2	1052	c.778G>T	c.(778-780)Gag>Tag	p.E260*	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Nonsense_Mutation_p.E260*	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	260						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTGGTGCGCTCGTCTGCCATG	0.667000													17	26					0.00074312	0.000833713	0.006122	1	0
LRFN2	57497	broad.mit.edu	37	6	40400710	40400710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:40400710G>A	ENST00000338305.6	-	2	685	c.143C>T	c.(142-144)cCt>cTt	p.P48L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	48	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCAATATCAGGGGGTACAAA	0.612000													17	54					0	0	0.004007	0	0
DNAH1	25981	broad.mit.edu	37	3	52428568	52428568	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52428568C>A	ENST00000420323.2	+	67	10975	c.10714C>A	c.(10714-10716)Cga>Aga	p.R3572R		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGGCTTGGCGAGACATCCT	0.572000													11	31					3.07112e-06	3.65198e-06	0.010729	1	0
YY2	404281	broad.mit.edu	37	X	21875522	21875522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:21875522G>T	ENST00000429584.2	+	1	1418	c.920G>T	c.(919-921)gGc>gTc	p.G307V	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	307	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GTCCACACCGGCGAGAAGCCC	0.547000													90	84					2.62214e-60	4.26938e-60	0.014410	1	0
NTRK3	4916	broad.mit.edu	37	15	88679705	88679705	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:88679705G>T	ENST00000394480.1	-	8	1079	c.758C>A	c.(757-759)aCt>aAt	p.T253N	NTRK3_ENST00000558676.1_Missense_Mutation_p.T253N|NTRK3_ENST00000557856.1_Missense_Mutation_p.T253N|NTRK3_ENST00000542733.2_Missense_Mutation_p.T155N|NTRK3_ENST00000540489.2_Missense_Mutation_p.T253N|NTRK3_ENST00000317501.3_Missense_Mutation_p.T253N|NTRK3_ENST00000360948.2_Missense_Mutation_p.T253N|NTRK3_ENST00000357724.2_Missense_Mutation_p.T253N|NTRK3_ENST00000355254.2_Missense_Mutation_p.T253N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	253	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACCTGGTGAGTGTTGATGGA	0.517000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			10	46					7.48243e-07	9.08478e-07	0.006214	1	0
TNRC6A	27327	broad.mit.edu	37	16	24816384	24816384	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:24816384G>A	ENST00000395799.3	+	14	4163	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1296Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1345					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCACAACCCCGGGGCATGCAG	0.473000													63	58					0	0	0.014410	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018983	14018983	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:14018983G>A	ENST00000279593.3	-	2	369	c.160C>T	c.(160-162)Cac>Tac	p.H54Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	54					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTTCTCGTGGGCATCCTTG	0.572000													23	113					0	0	0.014323	0	0
WDR96	80217	broad.mit.edu	37	10	105948147	105948147	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:105948147T>C	ENST00000357060.3	-	13	1683	c.1568A>G	c.(1567-1569)cAg>cGg	p.Q523R	WDR96_ENST00000428666.1_Missense_Mutation_p.Q524R|WDR96_ENST00000278064.2_Missense_Mutation_p.Q454R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	523										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTGGATATCTGTAAAATGTC	0.408000													19	44					0	0	0.007413	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415755	25415755	+	RNA	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:25415755C>A	ENST00000549301.1	+	0	269				SNHG14_ENST00000553149.1_RNA																							AGGTGCCAGCCCCCGGTGCGC	0.647000													12	54					7.03913e-09	9.04827e-09	0.013537	1	0
TTN	7273	broad.mit.edu	37	2	179597011	179597011	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179597011T>A	ENST00000589042.1	-	57	16909	c.16685A>T	c.(16684-16686)cAg>cTg	p.Q5562L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q5245L|TTN_ENST00000342992.6_Missense_Mutation_p.Q4318L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5245	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGCTAGCTGGGTGGCATC	0.403000													55	112					0	0	0.014410	0	0
C10orf137	26098	broad.mit.edu	37	10	127411642	127411642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:127411642G>A	ENST00000337623.3	+	3	428	c.323G>A	c.(322-324)gGc>gAc	p.G108D	C10orf137_ENST00000356792.4_Missense_Mutation_p.G108D	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTAGCTTTGGCATGGCATAT	0.378000													36	130					0	0	0.005524	0	0
CATSPER3	347732	broad.mit.edu	37	5	134345142	134345142	+	Silent	SNP	C	C	A	rs142712287		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:134345142C>A	ENST00000282611.6	+	6	984	c.898C>A	c.(898-900)Cgg>Agg	p.R300R		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	300					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCTGCAGCGGCAGCAGGA	0.562000													31	60					2.14196e-07	2.64619e-07	0.007291	1	0
AHNAK	79026	broad.mit.edu	37	11	62297619	62297619	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62297619C>G	ENST00000378024.4	-	5	4544	c.4270G>C	c.(4270-4272)Gat>Cat	p.D1424H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1424					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATATTCACATCTGGAACTTCA	0.468000													81	228					0	0	0.014410	0	0
FBN2	2201	broad.mit.edu	37	5	127782271	127782271	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:127782271C>A	ENST00000508053.1	-	13	1829	c.855G>T	c.(853-855)ggG>ggT	p.G285G	FBN2_ENST00000508989.1_Silent_p.G252G|FBN2_ENST00000262464.4_Silent_p.G285G			P35556	FBN2_HUMAN	fibrillin 2	285	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGGCATATCCCTGGGATAG	0.393000													20	25					6.44725e-10	8.49379e-10	0.014323	1	0
OTOGL	283310	broad.mit.edu	37	12	80699365	80699365	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:80699365T>G	ENST00000458043.2	+	28	3202	c.3196T>G	c.(3196-3198)Tca>Gca	p.S1066A	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1066A	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAACAAGCTATCAGGATTGTG	0.328000													8	20					0	0	0.003080	0	0
IGFL4	444882	broad.mit.edu	37	19	46543550	46543550	+	Translation_Start_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:46543550G>T	ENST00000601672.1	-	0	418				IGFL4_ENST00000377697.1_Missense_Mutation_p.S65R			Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4							extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGAAGGTGCAGCTGGAGCCGC	0.597000													20	53					8.81451e-21	1.32322e-20	0.008871	1	0
EFS	10278	broad.mit.edu	37	14	23826521	23826521	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:23826521C>A	ENST00000216733.3	-	6	2207	c.1600G>T	c.(1600-1602)Gcc>Tcc	p.A534S	EFS_ENST00000429593.2_Missense_Mutation_p.A365S|EFS_ENST00000351354.3_Missense_Mutation_p.A441S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	534					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TCTTGGATGGCAGGGCTGGAT	0.612000													4	101					0.00909568	0.00994106	0.009096	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110530661	110530661	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110530661G>T	ENST00000378402.5	+	73	12059	c.11955G>T	c.(11953-11955)agG>agT	p.R3985S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3985					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTGAGGAGGAAGAGATCCA	0.388000										HNSCC(38;0.096)			17	52					1.15088e-07	1.42458e-07	0.004007	1	0
FTCD	10841	broad.mit.edu	37	21	47557204	47557204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:47557204G>A	ENST00000355384.2	-	12	1487	c.1444C>T	c.(1444-1446)Caa>Taa	p.Q482*	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Silent_p.F496F|FTCD_ENST00000397746.3_Silent_p.F496F|FTCD_ENST00000397743.1_Nonsense_Mutation_p.Q482*|FTCD_ENST00000291670.5_Silent_p.F496F|FTCD_ENST00000359679.2_Silent_p.F496F			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	0	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TGAGCACGTTGAAATATGCGC	0.607000													45	131					0	0	0.014410	0	0
CUX2	23316	broad.mit.edu	37	12	111758214	111758214	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111758214G>T	ENST00000261726.6	+	17	2555	c.2401G>T	c.(2401-2403)Gcc>Tcc	p.A801S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	801						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCCCCTACGCCTCCGTGTC	0.721000													20	55					6.21321e-17	9.04906e-17	0.002780	1	0
SLC26A3	1811	broad.mit.edu	37	7	107423469	107423469	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107423469G>T	ENST00000340010.5	-	10	1373	c.1189C>A	c.(1189-1191)Ctc>Atc	p.L397I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L362I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	397					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATCTGGAGAGGGCAGTACTC	0.458000													32	87					9.17885e-22	1.39774e-21	0.003271	1	0
CUBN	8029	broad.mit.edu	37	10	17127685	17127685	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:17127685T>A	ENST00000377833.4	-	16	2086	c.2021A>T	c.(2020-2022)cAg>cTg	p.Q674L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	674	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCAGTAGTCTGGAGCGGTGG	0.458000													26	84					0	0	0.003954	0	0
RBP3	5949	broad.mit.edu	37	10	48389293	48389293	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:48389293G>C	ENST00000224600.4	-	1	1698	c.1585C>G	c.(1585-1587)Cca>Gca	p.P529A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	529	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGTAGCGTGGGCCCGGGAGC	0.667000													13	67					0	0	0.002450	0	0
PTPRT	11122	broad.mit.edu	37	20	40735527	40735527	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:40735527T>C	ENST00000373198.3	-	25	3590	c.3355A>G	c.(3355-3357)Att>Gtt	p.I1119V	PTPRT_ENST00000373184.1_Missense_Mutation_p.I1107V|PTPRT_ENST00000356100.2_Missense_Mutation_p.I1106V|PTPRT_ENST00000373187.1_Missense_Mutation_p.I1097V|PTPRT_ENST00000373190.1_Missense_Mutation_p.I1096V|PTPRT_ENST00000373193.3_Missense_Mutation_p.I1100V|PTPRT_ENST00000373201.1_Missense_Mutation_p.I1087V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1097	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGGTGTCAATGGCAATGAAG	0.582000													53	34					0	0	0.014410	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735160	31735160	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:31735160C>A	ENST00000342032.3	+	3	788	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	54					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											ACAGGCCACCCTGAATGTTGA	0.423000													62	86					8.4772e-36	1.35935e-35	0.014410	1	0
SCFD2	152579	broad.mit.edu	37	4	54179841	54179841	+	Missense_Mutation	SNP	G	G	T	rs138747864		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:54179841G>T	ENST00000401642.3	-	3	1230	c.1097C>A	c.(1096-1098)gCg>gAg	p.A366E	SCFD2_ENST00000388940.4_Missense_Mutation_p.A366E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	366					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTGCTTGCCGCTTCCACTAG	0.468000													15	31					7.93312e-07	9.57706e-07	0.002450	1	0
CSF2	1437	broad.mit.edu	37	5	131409633	131409633	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:131409633C>A	ENST00000296871.2	+	1	151	c.117C>A	c.(115-117)gcC>gcA	p.A39A		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	39					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCCAGGAGGCCCGGCGTCTCC	0.647000													21	45					4.96729e-08	6.23365e-08	0.008871	1	0
SYNE3	161176	broad.mit.edu	37	14	95942074	95942074	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:95942074C>G	ENST00000334258.5	-	1	99	c.85G>C	c.(85-87)Gtc>Ctc	p.V29L	SYNE3_ENST00000553340.1_Missense_Mutation_p.V29L|SYNE3_ENST00000557275.1_Missense_Mutation_p.V29L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TTGTCATTGACCTGCAGCTGG	0.652000													5	16					0	0	0.000602	0	0
KANK1	23189	broad.mit.edu	37	9	738306	738306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:738306C>T	ENST00000382303.1	+	12	4007	c.3355C>T	c.(3355-3357)Cag>Tag	p.Q1119*	KANK1_ENST00000382297.2_Nonsense_Mutation_p.Q1119*|KANK1_ENST00000382293.3_Nonsense_Mutation_p.Q961*|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1119					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAACACCCTCCAGCACGAGTG	0.502000													8	12					0	0	0.004482	0	0
EGF	1950	broad.mit.edu	37	4	110902034	110902034	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:110902034G>A	ENST00000265171.5	+	15	2719	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	EGF_ENST00000509793.1_Silent_p.K716K|EGF_ENST00000503392.1_Silent_p.K758K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	758	EGF-like 5.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTGCAAAAAGAGGCTTGGAA	0.438000													22	90					0	0	0.012319	0	0
OLIG3	167826	broad.mit.edu	37	6	137815175	137815175	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:137815175C>T	ENST00000367734.2	-	1	356	c.133G>A	c.(133-135)Ggc>Agc	p.G45S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ATCATATCGCCCTGCGTGGAC	0.607000													31	112					0	0	0.010818	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265919	89265919	+	RNA	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:89265919A>T	ENST00000464162.1	-	0	241																											TGGATGCAGCATAGATCAGGA	0.512000													84	218					0	0	0.014410	0	0
VSTM4	196740	broad.mit.edu	37	10	50315862	50315862	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50315862C>A	ENST00000332853.3	-	2	257	c.234G>T	c.(232-234)atG>atT	p.M78I	VSTM4_ENST00000298454.3_Missense_Mutation_p.M78I	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	78	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGAGCTTGGTCATCTTCACCA	0.627000													7	48					4.3838e-07	5.38436e-07	0.001855	1	0
LAMB4	22798	broad.mit.edu	37	7	107696308	107696308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107696308C>T	ENST00000388781.3	-	25	3607	c.3524G>A	c.(3523-3525)tGt>tAt	p.C1175Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.C1175Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.C1175Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1175	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCACAAGTGACATTGAAGACA	0.542000													20	75					0	0	0.012319	0	0
DIAPH3	81624	broad.mit.edu	37	13	60616954	60616954	+	Splice_Site	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:60616954C>T	ENST00000400324.4	-	5	716	c.495_splice	c.e5-1	p.G166_splice	DIAPH3_ENST00000400320.1_Splice_Site_p.G120_splice|DIAPH3_ENST00000400330.1_Splice_Site_p.G166_splice|DIAPH3_ENST00000400319.1_Splice_Site_p.G96_splice|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000377908.2_Splice_Site_p.G155_splice|DIAPH3_ENST00000267215.4_Splice_Site_p.G166_splice|DIAPH3-AS1_ENST00000432995.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	166	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTAAGACTTCCCTATAAAATA	0.378000													8	21					0	0	0.006214	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42406968	42406968	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42406968A>T	ENST00000599846.1	+	19	1951	c.1826A>T	c.(1825-1827)cAg>cTg	p.Q609L	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.Q553L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.Q535L|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.Q520L|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.Q568L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	553					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGCCGCCTGCAGCTGAAGGAC	0.662000													23	60					0	0	0.003330	0	0
XIST	7503	broad.mit.edu	37	X	73066245	73066245	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:73066245G>A	ENST00000429829.1	-	0	6343					NR_001564.2																						ATGTGGAGAGGACCCTCCTTT	0.468000													27	17					0	0	0.007291	0	0
NUBP1	4682	broad.mit.edu	37	16	10861862	10861862	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:10861862A>T	ENST00000283027.5	+	10	896	c.877A>T	c.(877-879)Acg>Tcg	p.T293S	TVP23A_ENST00000299866.8_3'UTR|TVP23A_ENST00000572980.1_Intron|NUBP1_ENST00000433392.2_Missense_Mutation_p.T282S	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	293					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TTCCCCAGCCACGTTAGCCTA	0.438000													40	31					0	0	0.008740	0	0
CRTAM	56253	broad.mit.edu	37	11	122709301	122709301	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:122709301G>A	ENST00000227348.4	+	1	93		c.e1+1			NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCCTTGCAAGGTAAGGACTTA	0.458000													16	51					0	0	0.006122	0	0
NPAS3	64067	broad.mit.edu	37	14	34269279	34269279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:34269279C>T	ENST00000346562.2	+	11	1744	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	NPAS3_ENST00000551492.1_Missense_Mutation_p.A594V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A576V|NPAS3_ENST00000356141.4_Missense_Mutation_p.A589V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A559V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCAGGCGAGGCGGGCGCGCAG	0.687000													5	17					0	0	0.000602	0	0
SEC61A1	29927	broad.mit.edu	37	3	127783841	127783841	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:127783841C>T	ENST00000243253.3	+	8	922	c.738C>T	c.(736-738)atC>atT	p.I246I	SEC61A1_ENST00000424880.2_Silent_p.I126I|SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.I252I|RUVBL1_ENST00000464873.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	246					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGAATCTCATCGCCACCATCT	0.512000													31	115					0	0	0.009535	0	0
TPR	7175	broad.mit.edu	37	1	186337063	186337063	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:186337063T>C	ENST00000367478.3	-	4	678	c.382A>G	c.(382-384)Att>Gtt	p.I128V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	128					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGGTTCTAATTAAGTCTCTT	0.323000			T	NTRK1	papillary thyroid								10	20					0	0	0.013537	0	0
MYH4	4622	broad.mit.edu	37	17	10355578	10355578	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:10355578G>T	ENST00000255381.2	-	27	3528	c.3418C>A	c.(3418-3420)Cgc>Agc	p.R1140S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1140					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582000													48	72					2.46787e-29	3.87896e-29	0.014410	1	0
USP9X	8239	broad.mit.edu	37	X	41077827	41077827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:41077827G>A	ENST00000324545.7	+	37	7045	c.6412G>A	c.(6412-6414)Gcc>Acc	p.A2138T	USP9X_ENST00000378308.2_Missense_Mutation_p.A2138T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2138					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCACCTTTTGCCTCTCCTGG	0.428000													39	26					0	0	0.008740	0	0
DCX	1641	broad.mit.edu	37	X	110644424	110644424	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:110644424T>C	ENST00000338081.3	-	3	913	c.742A>G	c.(742-744)Agt>Ggt	p.S248G	DCX_ENST00000488120.1_Missense_Mutation_p.S167G|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.S167G|DCX_ENST00000356915.2_Missense_Mutation_p.S167G|DCX_ENST00000356220.3_Missense_Mutation_p.S167G	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	248					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.S167C(1)|p.S248C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCCTGTGCACTGTTGCTGCTA	0.522000													37	26					0	0	0.003755	0	0
ZNF99	7652	broad.mit.edu	37	19	22940512	22940512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940512G>T	ENST00000397104.3	-	5	1925	c.1926C>A	c.(1924-1926)taC>taA	p.Y642*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.Y733*					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTAGGGTTTCT	0.378000													5	34					5.9392e-07	7.25268e-07	0.001168	1	0
PDHX	8050	broad.mit.edu	37	11	34988233	34988233	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:34988233G>A	ENST00000448838.3	+	6	885	c.643G>A	c.(643-645)Gag>Aag	p.E215K	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.E230K	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	230					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CAAGATTACCGAGTCCAGACC	0.502000													47	86					0	0	0.014410	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107640	6107640	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:6107640G>T	ENST00000409021.3	-	3	633	c.184C>A	c.(184-186)Cag>Aag	p.Q62K	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.Q62K|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.Q62K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	62	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCGTCGCTGCTCCTGCTCG	0.672000													20	35					5.26018e-13	7.309e-13	0.012319	1	0
C2orf49	79074	broad.mit.edu	37	2	105954021	105954021	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:105954021G>A	ENST00000437250.2	+	1	206	c.91G>A	c.(91-93)Gac>Aac	p.D31N	C2orf49_ENST00000410049.1_5'UTR|C2orf49_ENST00000258457.2_5'UTR			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	0						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTGGGTAGCCGACTGGGGTCT	0.672000													8	21					0	0	0.006214	0	0
USP17L2	377630	broad.mit.edu	37	8	11995836	11995836	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:11995836G>A	ENST00000333796.3	-	1	750	c.434C>T	c.(433-435)cCc>cTc	p.P145L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	145					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCCTGTGAGGGCTGGATGAC	0.527000													39	70					0	0	0.006999	0	0
C1orf173	127254	broad.mit.edu	37	1	75072489	75072489	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:75072489C>A	ENST00000326665.5	-	10	1503	c.1285G>T	c.(1285-1287)Ggg>Tgg	p.G429W	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G232W	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	429	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCACTTTCCCCTCAGCCTTC	0.403000													44	107					2.24893e-16	3.25301e-16	0.009718	1	0
MYCBP2	23077	broad.mit.edu	37	13	77672447	77672447	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:77672447C>A	ENST00000407578.2	-	56	9108	c.8842G>T	c.(8842-8844)Gac>Tac	p.D2948Y	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.D433Y|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2910Y|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2910Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGGTGCTGTCTGTTAGACTA	0.423000													35	68					4.65686e-17	6.79795e-17	0.003755	1	0
ROS1	6098	broad.mit.edu	37	6	117710810	117710810	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:117710810G>T	ENST00000368508.3	-	12	1660	c.1462C>A	c.(1462-1464)Cat>Aat	p.H488N	ROS1_ENST00000368507.3_Missense_Mutation_p.H497N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	488					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGATGAGATGGGAAGCAGAG	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								21	48					2.54575e-18	3.78583e-18	0.010504	1	0
PDE10A	10846	broad.mit.edu	37	6	165801917	165801917	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:165801917A>G	ENST00000366882.1	-	18	1806	c.1652T>C	c.(1651-1653)cTg>cCg	p.L551P	PDE10A_ENST00000354448.4_Missense_Mutation_p.L551P|PDE10A_ENST00000539869.2_Missense_Mutation_p.L561P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	551					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTCATGACACAGACACGCAAT	0.488000													25	66					0	0	0.004656	0	0
RP11-166N6.3	0	broad.mit.edu	37	3	150659511	150659511	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:150659511G>T	ENST00000569170.1	-	1	19	c.20C>A	c.(19-21)tCc>tAc	p.S7Y	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000327047.1_Silent_p.I97I|CLRN1_ENST00000328863.4_Silent_p.I97I|CLRN1_ENST00000295911.2_Silent_p.I21I																							CATTGACGTGGATGCTCACTG	0.393000													10	22					0.000673444	0.00075688	0.008291	1	0
PAMR1	25891	broad.mit.edu	37	11	35463127	35463127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:35463127G>C	ENST00000378880.2	-	7	1380	c.935C>G	c.(934-936)tCt>tGt	p.S312C	PAMR1_ENST00000532848.1_Missense_Mutation_p.S272C|PAMR1_ENST00000378878.3_Missense_Mutation_p.S201C|PAMR1_ENST00000278360.3_Missense_Mutation_p.S329C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	312	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACAAAAGAAAGACACCACGGT	0.493000													37	99					0	0	0.003271	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576820	149576820	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:149576820C>A	ENST00000230671.2	+	4	936	c.565C>A	c.(565-567)Ccc>Acc	p.P189T	SLC6A7_ENST00000524041.1_Missense_Mutation_p.P189T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	189						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CACCGTCAGCCCCAGCGAGGA	0.657000													13	27					0.00136819	0.00152422	0.013537	1	0
ACP6	51205	broad.mit.edu	37	1	147119326	147119326	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:147119326C>G	ENST00000369238.5	-	10	1633	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	396					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AAGAACATGTCCAGCGGGCAG	0.502000													22	46					0	0	0.010504	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762603	130762603	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:130762603C>G	ENST00000392429.1	+	2	3414	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P346A|TMEM200A_ENST00000296978.3_Missense_Mutation_p.P346A	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	346						integral to membrane		p.P346T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CACAGTGCTACCAAGGAATAA	0.517000													13	50					0	0	0.013537	0	0
SQRDL	58472	broad.mit.edu	37	15	45965859	45965859	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:45965859G>C	ENST00000260324.7	+	5	900	c.514G>C	c.(514-516)Gtt>Ctt	p.V172L	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.V172L|SQRDL_ENST00000568606.1_Missense_Mutation_p.V172L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	172							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAATTATTCAGTTAAGACTGT	0.418000													45	93					0	0	0.014410	0	0
USP46	64854	broad.mit.edu	37	4	53494256	53494256	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:53494256C>A	ENST00000441222.2	-	3	376	c.192G>T	c.(190-192)ttG>ttT	p.L64F	USP46_ENST00000451218.2_Missense_Mutation_p.L37F|USP46_ENST00000508499.1_Missense_Mutation_p.L57F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	64					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CCTTGTATGCCAACACATTCT	0.517000													14	31					6.72482e-11	8.95233e-11	0.003163	1	0
IGF2BP3	10643	broad.mit.edu	37	7	23383461	23383461	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:23383461A>T	ENST00000258729.3	-	9	1309	c.953T>A	c.(952-954)tTg>tAg	p.L318*		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	318	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATACAGCGTCAATTCCTGCAA	0.383000													27	27					0	0	0.005443	0	0
LOXL4	84171	broad.mit.edu	37	10	100012126	100012126	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:100012126G>A	ENST00000260702.3	-	12	2085	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	645	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCAGTTTGTGTCCTCCAGAC	0.537000													47	111					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13786380	13786380	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13786380G>A	ENST00000265104.4	-	52	8832	c.8728C>T	c.(8728-8730)Ctg>Ttg	p.L2910L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2910					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACATATTCAGACGCTCTTTT	0.428000									Kartagener syndrome				14	48					0	0	0.002450	0	0
ZNF835	90485	broad.mit.edu	37	19	57176038	57176038	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:57176038G>T	ENST00000537055.2	-	2	760	c.529C>A	c.(529-531)Cag>Aag	p.Q177K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TACGAGCCCTGGCTGAAGGCC	0.706000													11	21					0.000978159	0.00109354	0.010729	1	0
MAPT	4137	broad.mit.edu	37	17	44061110	44061110	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:44061110G>C	ENST00000344290.5	+	6	1262	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.E314Q|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E314Q|MAPT_ENST00000262410.5_Missense_Mutation_p.E314Q	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	314					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.E314Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CGTGCAGAAGGAGCAGGCGCA	0.647000													20	67					0	0	0.012319	0	0
MED6	10001	broad.mit.edu	37	14	71058033	71058033	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:71058033C>T	ENST00000256379.5	-	6	561	c.532G>A	c.(532-534)Gat>Aat	p.D178N	MED6_ENST00000440435.2_Intron|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000430055.2_Missense_Mutation_p.D185N|MED6_ENST00000554963.1_Missense_Mutation_p.D178N	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	178					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGTAAAGCATCCACACGTTGT	0.353000													14	39					0	0	0.004007	0	0
CD101	9398	broad.mit.edu	37	1	117560848	117560848	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117560848C>T	ENST00000256652.4	+	6	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	CD101_ENST00000369470.1_Silent_p.S561S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	561	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACCTGTCCTGTGTCGTGA	0.478000													6	37					0	0	0.001168	0	0
USP24	23358	broad.mit.edu	37	1	55545229	55545229	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:55545229C>A	ENST00000294383.6	-	60	7181	c.7182G>T	c.(7180-7182)ggG>ggT	p.G2394G	USP24_ENST00000407756.1_Silent_p.G2234G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2394					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTAAGGTTTCCCTTCAGACA	0.433000													31	113					7.11191e-15	1.00357e-14	0.013726	1	0
ATRNL1	26033	broad.mit.edu	37	10	116975564	116975564	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:116975564G>A	ENST00000355044.3	+	9	1584	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	486						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCATGGAGGGTATAAAGCAT	0.353000													10	24					0	0	0.010729	0	0
MYO18B	84700	broad.mit.edu	37	22	26422934	26422934	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:26422934G>T	ENST00000335473.7	+	43	7244	c.6994G>T	c.(6994-6996)Gac>Tac	p.D2332Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2332Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2333Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATCTCTTCAGACGGTGTTGG	0.557000													18	67					1.02788e-11	1.39467e-11	0.004990	1	0
IL9R	3581	broad.mit.edu	37	X	155235022	155235022	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:155235022A>T	ENST00000424344.3	+	7	963	c.596A>T	c.(595-597)cAt>cTt	p.H199L	IL9R_ENST00000369423.2_Missense_Mutation_p.H255L|IL9R_ENST00000540897.1_Missense_Mutation_p.H245L|IL9R_ENST00000244174.5_Missense_Mutation_p.H220L			Q01113	IL9R_HUMAN	interleukin 9 receptor	220	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTTATCCATGAGGCCAGG	0.582000													52	55					0	0	0.014410	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187951	42187951	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42187951C>A	ENST00000006724.3	-	3	672	c.471G>T	c.(469-471)ccG>ccT	p.P157P	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.P157P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	157	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGTTCTCCACCGGATTGAAGT	0.522000													43	114					1.15183e-24	1.77959e-24	0.009718	1	0
PTPRU	10076	broad.mit.edu	37	1	29611279	29611279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:29611279delC	ENST00000373779.3	+	14	2345	c.2216delC	c.(2215-2217)tcfs	p.S739fs	PTPRU_ENST00000345512.3_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000460170.2_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000428026.2_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000356870.3_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000323874.8_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000415600.2_3'UTR	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	739					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGAGGTGTCCCAGAGATCG	0.577													26	86	---	---	---	---					
SELP	6403	broad.mit.edu	37	1	169582838	169582838	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169582838delG	ENST00000263686.6	-	4	612	c.575delC	c.(574-576)cafs	p.P192fs	SELP_ENST00000458599.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367788.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367791.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367794.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367793.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367792.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367786.2_Frame_Shift_Del_p.P192fs	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	192	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCACATTCTGGCCCATAGAA	0.453													20	65	---	---	---	---					
IGKV1-16	28938	broad.mit.edu	37	2	89399775	89399775	+	RNA	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:89399775delG	ENST00000479981.1	-	0	79																											ATCCTTACCTGGGAAACAGAG	0.498													27	84	---	---	---	---					
IGKV1D-16	28901	broad.mit.edu	37	2	90139155	90139155	+	RNA	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:90139155delC	ENST00000492446.1	+	0	78																											TGCTCTGTTTCCCAGGTAAGG	0.498													12	242	---	---	---	---					
CNGA3	1261	broad.mit.edu	37	2	99013410	99013410	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:99013410delG	ENST00000393504.1	+	8	2194	c.1777delG	c.(1777-1779)aafs	p.E593fs	CNGA3_ENST00000272602.2_Frame_Shift_Del_p.E593fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.E575fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.E597fs	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	593			E -> K (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGAGTACCCCGAAGCCAAGAA	0.612													28	45	---	---	---	---					
IL36G	56300	broad.mit.edu	37	2	113737705	113737706	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:113737705_113737706insA	ENST00000259205.4	+	4	349_350	c.280_281insA	c.(280-282)gccfs	p.A94fs	IL36G_ENST00000376489.2_Frame_Shift_Ins_p.A59fs	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	94					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGTTGGAGAACAGCCCACATTG	0.371													15	38	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179404975	179404975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179404975delG	ENST00000589042.1	-	351	98142	c.97918delC	c.(97918-97920)aafs	p.Q32640fs	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.Q30999fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.Q23575fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.Q23700fs|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.Q23767fs|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.Q30072fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30999	Ig-like 144.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACTTTTTGCATTTCAATC	0.443													74	214	---	---	---	---					
CREB1	1385	broad.mit.edu	37	2	208420421	208420421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:208420421delA	ENST00000432329.2	+	2	313	c.62delA	c.(61-63)gafs	p.E21fs	CREB1_ENST00000430624.1_Frame_Shift_Del_p.E21fs|CREB1_ENST00000374397.4_Frame_Shift_Del_p.E21fs|CREB1_ENST00000353267.3_Frame_Shift_Del_p.E21fs|CREB1_ENST00000536726.1_Frame_Shift_Del_p.E21fs	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	21					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGAAGCTGAAAACCAACAA	0.433			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								10	17	---	---	---	---					
COL6A3	1293	broad.mit.edu	37	2	238303598	238303598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:238303598delC	ENST00000295550.4	-	3	793	c.341delG	c.(340-342)gafs	p.G114fs	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.G114fs|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.G114fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	114	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGATTGGTTCCCCCAATATA	0.458													22	90	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													7	14	---	---	---	---					
LPA	4018	broad.mit.edu	37	6	161020587	161020587	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161020587delA	ENST00000447678.1	-	21	3352	c.3232delT	c.(3232-3234)ggfs	p.W1078fs	LPA_ENST00000316300.5_Frame_Shift_Del_p.W1078fs	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3586	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGATGACCAAGCTTGGCAA	0.502													9	687	---	---	---	---					
HNRNPA2B1	3181	broad.mit.edu	37	7	26232884	26232885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:26232884_26232885insC	ENST00000354667.4	-	10	1154_1155	c.986_987insG	c.(985-987)gccfs	p.A329fs	HNRNPA2B1_ENST00000356674.7_Frame_Shift_Ins_p.A317fs	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	329	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACCATATGGTCCCCCCATGTT	0.361			T	ETV1	prostate								25	107	---	---	---	---					
MAPK15	225689	broad.mit.edu	37	8	144804268	144804272	+	Frame_Shift_Del	DEL	GGCCC	GGCCC	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:144804268_144804272delGGCCC	ENST00000338033.4	+	14	1601_1605	c.1482_1486delGGCCC	c.(1480-1488)gaggfs	p.EAR494fs		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	494					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCCTCCGGAGGCCCGGCCCGGCCG	0.659													25	180	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													7	9	---	---	---	---					
OR8J1	219477	broad.mit.edu	37	11	56128025	56128025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:56128025delG	ENST00000303039.3	+	1	335	c.303delG	c.(301-303)ctfs	p.L101fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCACCCAACTGGGAGGGTTCT	0.413													38	89	---	---	---	---					
RP11-166D19.1	0	broad.mit.edu	37	11	121970551	121970552	+	RNA	INS	-	-	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:121970551_121970552insA	ENST00000531381.1	-	0	732				MIR125B1_ENST00000385236.1_RNA																							GAGAGGAGCGCAACAATGTTTT	0.446													7	19	---	---	---	---					
CD163	9332	broad.mit.edu	37	12	7639140	7639141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:7639140_7639141insC	ENST00000359156.4	-	10	2614_2615	c.2412_2413insG	c.(2410-2415)ggagcafs	p.A805fs	CD163_ENST00000396620.3_Frame_Shift_Ins_p.A838fs|CD163_ENST00000432237.2_Frame_Shift_Ins_p.A805fs|CD163_ENST00000541972.1_Frame_Shift_Ins_p.A793fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	805	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAATTTTGCTGCCCCCAGCCGT	0.480													57	214	---	---	---	---					
PCDH8	5100	broad.mit.edu	37	13	53421350	53421351	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:53421350_53421351delCG	ENST00000377942.3	-	1	1424_1425	c.1221_1222delCG	c.(1219-1224)cgagfs	p.RE407fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.RE407fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	407	Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACCAGGCTCTCGCGCGCCGCCC	0.757													4	9	---	---	---	---					
MTA1	9112	broad.mit.edu	37	14	105920619	105920619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:105920619delG	ENST00000331320.7	+	7	736	c.522delG	c.(520-522)cafs	p.Q174fs	MTA1_ENST00000406191.1_Frame_Shift_Del_p.Q174fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.Q157fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	174	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCGGTACCAGGCAGACATCA	0.542													14	45	---	---	---	---					
IGHM	3507	broad.mit.edu	37	14	106320561	106320561	+	RNA	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:106320561delG	ENST00000390559.2	-	0	1248																											AGGGCCTCATGGGCCACCACG	0.642													25	79	---	---	---	---					
RP11-652G5.1	0	broad.mit.edu	37	16	32613944	32613945	+	RNA	INS	-	-	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:32613944_32613945insA	ENST00000562976.1	+	0	236_237																											CACCGTCTGCCACCACAAGTGT	0.431													4	3	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579433	7579433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7579433delG	ENST00000420246.2	-	4	386	c.254delC	c.(253-255)ctfs	p.P85fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P85fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P85fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	85	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A83fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCTGGTGCAGGGGCCGCCGG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	57	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													4	2	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57327872	57327872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:57327872delC	ENST00000326441.9	-	10	2301	c.1938delG	c.(1936-1938)cafs	p.Q646fs	PEG3_ENST00000598410.1_Frame_Shift_Del_p.Q522fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.Q520fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.Q646fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	646					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGGATTTTCTGATGTTCTT	0.398													31	100	---	---	---	---					
MXRA5	25878	broad.mit.edu	37	X	3235326	3235327	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:3235326_3235327delGC	ENST00000217939.6	-	6	6549_6550	c.6395_6396delGC	c.(6394-6396)cfs	p.R2133fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2133	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCGTCCTGCGCGCGGAGCC	0.663													6	5	---	---	---	---					
IL1RAPL2	26280	broad.mit.edu	37	X	104440323	104440323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:104440323delG	ENST00000372582.1	+	3	1005	c.249delG	c.(247-249)ttfs	p.L83fs	IL1RAPL2_ENST00000344799.4_Frame_Shift_Del_p.L83fs	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	83	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGTGATTTGGAAGAGCCCA	0.448													28	23	---	---	---	---